FALL 2011
ISSUE HIGHLIGHTS
Medical Advisory Board Profile Dr. Eva Mamak joins our team
A Memorial Tribute A fond farewell to Sarah Gilhuis
Family News Jasper Moore receives funding
for MPS VI ERT in Ontario: his
family shares their story
Fundraising News Steps for a Cure raises funds
and awareness in Nova Scotia
Research Grant Requests for
Applications - the Society
continues to provide funding for
excellent research into MPS
2011 Summer Studentship
Research Grants - a report on
one of the projects funded by
the Society
Research News An update on the MPS IV A trial
The Society launches its new
colour-cover edition of
the Connection - enjoy!
www.mpssociety.ca
SUPPORT FOR FAMILIES. RESEARCH FOR A CURE.
IN THIS ISSUE
Our Vision:
We believe in a brighter future for those affected with and by
Director Reports
4
MAB Profile
8
Birthday Greetings
9
Donations
10
In Memory of Sarah Gilhuis
12
Family News: More family
14
affected are living long, healthy and fulfilling lives - enjoying the company
In the News: Jasper More
15
of their friends, children and grandchildren.
Advocacy
16
Our Mission:
Upcoming Events
17
Founded in 1984, The Canadian Society for Mucopolysaccharide and
Treatments & Trials
18
Related Diseases Inc. (The Canadian MPS Society) is committed to
Clinical Studies
20
providing support to individuals and families affected with MPS and related
Update on MPS IV A Trial
22
diseases, educating medical professionals and the general public about
Research for a Cure
24
MPS, and raising funds for research so that one day there will be cures for
Education & Awareness
26
all types of MPS and related diseases.
Fundraising
27
Our Values:
Publication List
28
The Canadian MPS Society values:
Membership Form
29
• community and compassionate support
Family Assistance Program
30
• health and wellness
Holiday Art Contest
32
• justice and equality
Mucopolysaccharide (MPS) and related lysosomal diseases. We envision
a future where patients no longer die from MPS and related diseases
because treatments have been developed, cures have been discovered,
and our government has made these treatments and cures accessible to
those who need and deserve them. In the future we envision, those
• education and awareness
• research and innovation
• accountability and transparency
PO Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Phone: 604.924.5130 / 1.800.667.1846
Fax: 604.924.5131
Email: info@mpssociety.ca
www.mpssociety.ca
Charity # 12903 0409 RR0001
Smiles on the Front Cover (left to right): Graham Hunt, Troy Hunt and Eric
Halliday - all cousins of Ryan Hunt (MPS II) - taking “steps for a cure” in
Nova Scotia. See page 27 for more information on the event.
Do you have family news, photos, fundraising news or an interesting article to share
with the Connection’s readers? We’d love to hear from you!
Please submit your information by email, if possible, to info@mpssociety.ca.
The articles in this newsletter are for informational purposes only, and do not
necessarily reflect the opinions of The Canadian Society for Mucopolysaccharide &
Related Diseases and its board of directors. We do not endorse any of the
medications, treatments or products reported in this newsletter, and strongly advise
that you discuss any drugs or treatments mentioned with your physician.
2
BOARD OF DIRECTORS AND MEDICAL ADVISORY BOARD
BOARD OF
DIRECTORS
Bernie Geiss, Chair
North Vancouver, BC
Professional
604.924.3451
bgeiss@shaw.ca
Carrie Nimmo, Vice-Chair
Vancouver, BC
MPS I Aunt
604.936.6183
carrie@mpssociety.ca
Jean Linden, Secretary
Prince George, BC
MPS III Parent
250.564.3698
jean@mpssociety.ca
Brenda MacLean, Treasurer
Vancouver, BC
Professional
604.980.7556
brenda@mpssociety.ca
Mary Nelis, Quebec Representative
Bedford, QC
MPS I Parent
450.248.7376
mary.nelis@sympatico.ca
Barbara Boland, Newfoundland
Representative
St. John’s, NL
MPS III Parent
709.753.7874
barbara@mpssociety.ca
Judy Byrne
Guelph, ON
MPS I Parent
519.836.5949
judy@mpssociety.ca
Todd Harkins
North Vancouver, BC
MPS I Parent
604.929.8969
todd@mpssociety.ca
Aubrey Hawton
Moonstone, ON
MPS III Parent
705.835.5288
aubrey@mpssociety.ca
Dan Priest
Richmond, BC
MPS IVB Parent
604.271.2995
dan@mpssociety.ca
Matthew Santos
Mississauga, ON
Adult with MPS IVB
905.542.1442
matthew@mpssociety.ca
MEDICAL
ADVISORY BOARD
Lorne Clarke, Chair
M.D., C.M., F.R.C.P.C., F.C.C.M.G.
University of British Columbia
Vancouver, BC
Robin Casey
M.D., M.S.C.
Alberta Children’s Hospital
Calgary, AB
Joe Clarke
M.D., Ph.D.
Hospital for Sick Children
Toronto, ON
Aneal Khan
M.D.
Alberta Children’s Hospital
Calgary, Alberta
Mark Ludman
M.D., F.R.C.P.C., F.C.C.M.G.
IWK Health Centre
Halifax, NS
Eva Mamak
Ph.D. (Neuropsychology)
Hospital for Sick Children
Toronto, ON
3
Serge Melancon
M.D.
Montreal Children’s Hospital
Montreal, QC
John Mitchell
M.D.
Montreal Children’s Hospital
Montreal, QC
Cheryl Rockman-Greenberg
M.D., C.M., F.R.C.P.
Winnipeg Children’s Hospital
Winnipeg, MB
Julian Raiman
M.D.
Hospital for Sick Children
Toronto, ON
Tony Rupar
M.D.
CPRI
London, ON
Sylvia Stockler
M.D.
BC Children’s Hospital
Vancouver, BC
STAFF
Kirsten Harkins, Executive Director
kirsten@mpssociety.ca
Jill Ley, Executive Assistant
jill@mpssociety.ca
“My friends, love is better than
anger. Hope is better than
fear. Optimism is better than
despair. So let us be loving,
hopeful and optimistic. And
we’ll change the world.”
-Jack Layton
CHAIR’S REPORT
Greetings from the Board.
On August 28, 2011 our Board gathered
just south of Vancouver for our Annual
General Meeting (AGM) to cover our
2010-2011 fiscal year. We were pleased
that so many local families made the effort to attend. During our meeting, Todd
Harkins and I were re-elected to the
Board for another 3 year term. This was
also the first AGM our newest board
members, Daniel Priest and Matt Santos,
were able to participate in. A full report
and our financial statements for this past
year will be included in our Annual Report, enclosed with this newsletter.
Randall Linton, one of our board members who joined in 2008, unfortunately
declined to put forth his nomination for
another three years. Randall's contributions were tremendous and we will miss
his input and insight immensely. Unfortunately, like so many of our members, the
combined challenges of work, community,
and caring for a child affected with MPS
were too demanding and Randall did not
feel he could give what was required. On
behalf of the Board we would like to thank
Randall and his family for their contributions over the last three years and we
look forward to working with them on a
less formal basis in the future.
The day prior to our AGM, our board
member Bernie Geiss was kind enough to
host a full day board meeting at his summer home. Given the expanse of our
nation, and the fact that our Board has
members from Newfoundland to British
Columbia, our bi-monthly board meetings
are usually held by teleconference. The
AGM gives our board the opportunity
once per year to actually meet face to
face. As you can imagine, these are the
most productive meetings. Running the
Board is an ever evolving task. We have
a number of subcommittees: fundraising,
governance, family support – all of which
have policies and procedures that need
constant upgrading and updating. This
meeting gives us an opportunity to discuss where we see the Society going in
the next five to ten years. We develop
our vision and philosophy that guide us
and inspire us going forward. It was an
extremely inspiring meeting and I look
forward to the work that the Board will be
doing in the next several years.
It is also with great sadness that I must
step down from my position as Chair of
this wonderful Board. While I will remain
on the Board as a member at large, I too
felt the demands of work, community and
being a mom was becoming too demanding to give what I thought this position
required. More importantly, I believe
firmly that for a Board to grow and progress, new ideas and new leadership are
required every once in a while, to keep
things fresh. I joined the board in 2002,
just after my daughter had her bone marrow transplant and became the Chair the
very next year. In those eight years I
have witnessed our little Society grow
tremendously. When I started my term as
Chair, treatments were just a distant
dream, and we occupied our time mostly
with some minor fundraising and family
support. My, but the landscape has
changed! We now have treatments available for MPS I, MPS II and MPS VI, with
clinical trials in MPS IV A. While our access to treatment remains a day to day
challenge, the progress made has been
tremendous. The amount of research
that is in this field and the general interest
has also increased greatly. Being so
close to these advances has been truly
inspiring and humbling. I will always be
indebted to those doctors, researchers
and advocates who I have met over the
last eight years and who have dedicated
their lives to children who they have not
even met.
My greatest sense of accomplishment
comes from bringing the International
Symposium on MPS and Related Diseases to Vancouver in 2008. This is the
bi-annual meeting that brings doctors,
researchers and families from around the
4
world to discuss the latest research, advances and treatments for MPS. Prior to
Vancouver, these conferences were in
Paris, France, Mainz, Germany and Venice, Italy. Since then it has gone to Australia, and will be held next in the Netherlands and then Brazil. We are still told
that the Vancouver conference was one
of the best. Our ability to host such a
prestigious event has made everyone
stand up and take notice of our impact on
the MPS world. This can only help the
cause of MPS families in Canada. In the
last eight years we have also implemented a strategic plan, brought our Executive Director to a full time position and
hired an additional assistant for our office.
We are also working very hard to include
our French speaking members in more of
our activities. I owe a debt of gratitude to
the various members of the Board whom I
have had the pleasure to work with over
the years. I am also forever indebted to
the Executive Directors I have worked
with – first Lori Di Ilio and then Kirsten
Harkins, without whom none of this would
have happened. It is one thing to have
the ideas - it is another thing to get them
done. That is the thankless work of the
Executive Director, and I could not have
asked for anyone better to fill that role.
Finally, thanks to my husband and children, without whose support, none of this
would have happened. My love for you
knows no bounds.
I am pleased to announce that Bernie
Geiss has graciously agreed to take over
our Chair position. Bernie is extremely
dedicated to our Society and I believe will
do our Society a great service. Good luck
Bernie and thanks!
Thanks again for the opportunity to work
with such wonderful families. I hope to
see you all at the National Family Conference in July 2012!
RAPPORT DE LA PRESIDENTE
conseil d’administration qui a duré une
journée complète. Compte-tenu de
l’étendue de notre pays, et le fait que le
Conseil comprend des membres de
Terre-Neuve et de la Colombie
Britannique, nos réunions bimensuelles
Le 28 août 2011, votre
du conseil, sont généralement tenues par
Conseil s’est réuni au
sud de Vancouver, pour téléconférence. L’Assemblée générale
son Assemblée générale annuelle offre l’occasion à notre Conseil
d’administration de se rencontrer face à
annuelle, afin de
face, une fois par année. Comme vous
discuter de l’exercice
financier 2010-2011. Nous avons été très pouvez l’imaginer, ce sont les réunions
les plus fructueuses. Diriger le Conseil
heureux de constater que plusieurs
familles locales ont déployé leurs efforts est une tâche en constante
pour assister à cette Assemblée. Lors de évolution. Nous avons plusieurs souscomités, des collectes de fonds, la
cette rencontre, Todd Harkins et moigouvernance et le soutien familial, pour
même avons été réélus au sein du
Conseil d’administration, pour un mandat lesquels les politiques et procédures
de trois ans. De plus, c’était la première doivent constamment être améliorées et
Assemblée générale annuelle à laquelle modernisées. Cette réunion nous donne
nos nouveaux membres, Daniel Priest et l’occasion de discuter de l’évolution du
Conseil, pour les cinq prochaines années.
Matt Santos ont pu participer. Vous
recevrez avant la fin de 2011, un rapport Nous développons notre vision et notre
philosophie lesquelles nous guideront et
détaillé de nos états financiers pour
inspireront dans l’avenir. Cette réunion
l’exercice précédent.
nous a beaucoup inspirés, et nous avons
hâte de voir le travail que le Conseil
effectuera au fil des ans.
Randall Linton, notre membre qui s’est
joint au conseil en 2008, a
malheureusement refusé de poser sa
C’est également avec une grande
mise en candidature pour un autre
mandat de trois ans. Les contributions de tristesse que je dois démissionner de
mon poste de présidente du Conseil
Randall à l’appui de notre cause, furent
d’administration. Bien que je vais rester
considérables et ses connaissances et
membre du Conseil, dans le sens large
ses idées nous
manquerons. Malheureusement, comme du mot, j’ai à mon tour, ressenti les
exigences de ce travail communautaire,
beaucoup de nos membres, les défis
conjugués au travail communautaire et le et en tant que maman, cela devenait trop
exigeant par rapport à ce que je croyais
fait de prendre soins d’un enfant atteint
qu’il fallait investir. Plus important, je
de MPS, étaient trop exigeants, et
crois fermement que l’évolution, les
Randall sentait qu’il ne pouvait remplir
nouvelles idées et le renouveau du
toutes ces exigences. Au nom du
leadership du Conseil sont nécessaires à
Conseil, nous aimerions remercier
l’occasion, et ce, afin de rester toujours à
Randall et sa famille pour leurs
contributions au cours des trois dernières l’affût. J’ai joint le Conseil en 2002,
années et nous anticipons travailler avec après que ma fille a eu la transplantation
de moelle osseuse et je suis devenue
eux, sur une base moins formelle dans
Présidente, l’année suivante. Au cours
l’avenir.
de ces huit ans, je fus témoin que notre
petite Société a beaucoup pris
d’ampleur. Lorsque j’ai commencé les
La veille de notre Assemblée générale
annuelle, Bernie Geiss, notre membre du traitements, ce n’était qu’un rêve lointain
et nous étions occupés par des petites
conseil, a eu la gentillesse d’accueillir à
collectes de fonds et le soutien aux
sa résidence d’été, une réunion du
Votre Conseil
d’administration vous
salue.
5
familles. Mais la situation a changé!
Maintenant, nous avons accès à des
traitements pour les MPS I, MPS II et
MPS VI, et des essais cliniques pour les
MPS IV. Même si l’accès aux
traitements est un défi quotidien, les
progrès qui ont été accomplis sont
énormes. Le nombre de recherches dans
ce domaine ainsi que l’intérêt général ont
beaucoup pris d’ampleur. Le fait d’être
aussi prête de ces avancées fut très
inspirant pour moi et fut aussi, une leçon
d’humilité. Je serai toujours redevable à
ces médecins en recherches et ces
défenseurs que j’ai rencontrés au cours
de huit dernières années, qui ont
consacré leur vie, à des enfants qu’ils
n’ont jamais rencontrés.
Mon plus grand sentiment
d’accomplissement est d’avoir eu à
Vancouver en 2008, la Conférence
internationale sur les MPS et les
maladies liées. Il s’agit d’une réunion
biannuelle qui réunit des médecins, des
chercheurs et des familles autour du
monde, afin de discuter des dernières
recherches, les avancées et les
traitements pour les MPS. Avant d’avoir
lieu à Vancouver, ces conférences
avaient lieu à Paris en France, Mayence
en Allemagne et à Venice en
Italie. Depuis, elles ont eu lieu en
Australie et se tiendront en Hollande et
au Brézil. Nous avons toujours cru que
la conférence qui a eu lieu à Vancouver,
fut la meilleure. Notre capacité à accueillir
un événement aussi prestigieux a réussi
à sensibiliser et mobiliser les gens quant
à l’importance des MPS dans le
monde. Ce qui aide les familles et la
mission des MPS au Canada. Au cours
des huit dernières années, nous avons
également mis en œuvre un plan
stratégique : effectuer des changements
afin que de créer en permanence le poste
de Directeur général, et pour embaucher
un autre adjoint pour notre bureau. Nous
travaillons ardument pour impliquer nos
membres francophones dans plusieurs
activités.
RAPPORT DE LA PRESIDENTE/DIRECTRICE EXECUTIVE
Je suis très reconnaissante envers les
différents membres du Conseil avec qui
j’ai eu le plaisir de travailler, au cours des
années. Je dois beaucoup aux directeurs
exécutifs avec qui j’ai travaillé, d’abord:
Lori DiIlio et Kirsten Harkins, sans elles,
rien de tout cela ne serait arrivé. D’avoir
des idées c’est une chose mais de les
réaliser, cela en est une autre. C’est la
tâche ingrate d’une Directrice exécutive,
je n’aurais pas pu choisir de meilleures
personnes
pour occuper
ces fonctions.
Enfin, sans
l’appui de mon
mari et mes
enfants, rien
n’aurait été
possible. Mon
amour pour
vous n’a pas
de limite.
Conseil et nous nous réjouissons à
l’avance pour ses suggestions, et nous
travaillerons ensemble vers un avenir
Comme vous pourrez le lire dans le
prometteur. Sous la direction de Bernie,
rapport de Judy, c’est la fin d’une ère
pour le Conseil d’administration de notre nous entamons une ère de gouvernance
enthousiaste car c’est la première fois
Société. Lors d’une récente réunion du
conseil, Bernie Geiss a pris les rênes de que notre conseil sera dirigé par une
président de Judy Byrne, marquant ainsi personne qui n’a pas d’enfant atteint de
la fin d’un mandat de huit ans démontrant MPS. Nous sommes touchés par la
volonté de Bernie, alors qu’il pourrait
un fort leadership doté de principes. Je
suis convaincue que vous allez tous vous dévouer ce temps en présence de sa
famille, il a choisi dévouer beaucoup de
son temps afin d’aider les familles comme
les nôtres, affectées par les MPS et les
maladies apparentées.
Joyeux automne à vous tous!
En feuilletant ce bulletin, vous trouverez
des histoires qui soulignent les réussites
intéressantes dans le domaine des MPS
et des maladies apparentées, comme la
MPS IV A essai clinique de phase III, qui
est actuellement en cours d’initiation de
traitement enzymatique substitutif, pour
un gentil petit garçon atteint de la MPS
VI. Cependant, vous trouverez de plus,
Je suis
un extrait d’un témoignage d’amour à la
heureuse de
mémoire de Sarah Gilhuis, qui a vécu sa
vous faire part
vie avec les MPS III, une vie de trop
que Bernie
joindre à moi pour remercier Judy pour
courte durée, mais qui a tout de même
Geiss a gracieusement accepté
apportée un amour inouï et de la joie à
d’occuper le poste de Présidente. Bernie ses innombrables heures de bénévolat
lesquelles ont contribuées à la croissance ceux qui ont eu la chance d’en faire
est extrêmement dévouée envers notre
et à la prospérité de notre Société, et ce, partie. L’hommage à Sarah se veut un
Société, et je crois qu’en nommant
rappel car il reste encore beaucoup à
Bernie, nous faisons une grande faveur à tout en poursuivant sa mission quant au
soutien aux familles, à la recherche d’un faire pour s’assurer que les traitements
notre Société. Bonne chance et merci
remède à la fine pointe de son esprit,
sont disponibles pour tous les enfants
Bernie!
ainsi qu’à la motivation de la Société afin atteints des MPS et des maladies
qu’elle puisse atteindre ses plus hauts
apparentées et que nous devons faire
sommets. En tant que mère qui travaille tout notre possible afin de fournir un
Merci encore pour m’avoir donné
(et une maman d’un enfant atteint des
soutien à tous nos membres lorsque ce
l’occasion de travailler avec ces familles
MPS) je sais combien il est difficile
jour apparaît.
merveilleuses. J’espère vous voir tous,
d’essayer de concilier l’équilibre entre la
lors de la Conférence nationale de la
vie professionnelle, la vie familiale et les
famille en juillet 2012.
engagements qu’exigent le bénévolat (et À l’occasion de l’Action de Grâces, je
je doute que cet équilibre puisse être
vous remercie pour me permettre de
atteint!). Donc, j’aimerais offrir toute ma continuer à travailler avec vous tous, à
gratitude à Judy pour son abnégation,
cette mission qui me tient à coeur.
son dévouement sans réserve et sa
sagesse, et aussi à son époux Terry et
ses enfants : Sarah, Daniel et Collin, pour
nous avoir permis de profiter de la
présence de Judy au sein de notre
Above: Members of the Society at the
Société. Nous sommes reconnaissants
2011 Annual General Meeting
que Judy continue à faire partie du
6
EXECUTIVE DIRECTOR’S REPORT
my sincere appreciation goes out to Judy
for her selfless, generous contributions of
time and wisdom, and to her husband
As you’ll read in Judy’s Terry and her children Sarah, Daniel and
report, it’s the end of an Colin for sharing her with us. We are
thankful that Judy will remain on our
era for our Society’s
board, and look forward to her continued
board of directors. At
input as we work together toward an
our recent board meeteven brighter future. Under Bernie’s
ing, Bernie Geiss took
leadership, we are embarking on a era of
over the chairperson
enthusiastic governance – this is the first
reins from Judy Byrne,
marking the end of an eight-year term of time our board has been led by someone
without a child affected by MPS and we
strong and principled leadership. I’m
are humbled by Bernie’s willingness to
sure all of you will join me in thanking
dedicate so much of the time he could be
Judy for the countless hours she has
volunteered to help our Society grow and spending with his own family to help
families like ours affected by MPS and
prosper, always keeping our mission of
related diseases.
support for families and research for a
cure in the forefront of her mind while
pushing us to reach greater and greater
In the pages of this newsletter, you’ll find
heights. As a working mother (and a
mom of a child with MPS) myself, I know stories that highlight exciting successes
in the field of MPS and related diseases
how difficult it is to try to balance work,
family, and volunteer commitments (and I – like the MPS IV A Phase III trial curdoubt that balance is ever achieved!), so rently underway and the initiation of enHappy fall, everyone!
zyme replacement therapy for a sweet
little guy with MPS VI. However, you’ll
also find a loving memorial to Sarah Gilhuis, whose life lived with MPS III was far
too short but brought incredible love and
joy to those blessed to be part of it.
Sarah’s memorial is a tribute to her and
also a reminder that much more needs to
be done to ensure that treatments are
available for all children with MPS and
related diseases and that we must do all
we can to provide support for all our
members until that day comes.
At Thanksgiving, I give thanks for the
opportunity to continue to work toward
that end with all of you.
2012 MEMBERSHIP RENEWALS
Early in December, you will be receiving a reminder to renew your membership online.
If we do not have your email address, you will receive a hard copy form with your winter newsletter.
Regardless of the time of year we receive your membership renewal,
membership with the Society is from January 1–December 31.
(Unless you sign up as a new member during the last quarter of the year,
in which case we consider your membership paid for the following year.)
Your 2012 membership will be valid through December 31, 2012. When you renew online, you will receive a PDF
income tax receipt, your membership will be updated automatically, and the Society will save on printing and postage costs. When renewing online, please first login to your account (if you don’t remember your password, the website will email it to you) then renew your membership and update your profile so that we have your
consent to include your contact information in our membership directory and to reprint your child(ren)’s
photos, birthdates and/or memorial dates. Please note that your profile must be updated annually.
You can find a Membership Form on page 29 if you prefer renewing the ‘old-fashioned’ way!
Thank you for your continued support!
7
MEDICAL ADVISORY BOARD MEMBER PROFILE: EVA MAMAK
determine what these specific changes in
the brain or development will mean for an
individual child, and how this might impact their education, their home and social life, and their long-term expectations.
WHY DID YOU BECOME A
DOCTOR?
I originally became interested in paediatric neuropsychology because it is largely
a problem solving process, and I am a
curious person who loves to consider a
situation from many different perspectives. My job involves determining the
personal strengths and resiliencies
unique to each child, and how those may
support development. It also involves determining the nature of the challenges
that an individual child might face, and
how to effectively intervene and support
the child and their family in dealing with
those challenges in daily life. I enjoy consulting with schools, therapists, and parents to help guide interventions, because
of the various perspectives that each of
us can contribute. And, most importantly,
I enjoy getting to know the individual children, their parents and their families! It is
rewarding to be able to collaborate with
families in determining a strong plan for a
child’s education and home life.
I am a paediatric neuropsychologist (not
a physician). So, first of all, I would like to
explain the process required to become a
WHAT LED YOU TO BECOME
paediatric neuropsychologist, and the
skills and perspective that a paediatric
INVOLVED IN MPS DISEASES?
neuropsychologist brings to the team.
I began my clinical work in graduate
school at the University of North Carolina
– at the Center for Development and
Learning. There, I participated in some of
the neurocognitive assessments of children with MPS-II in the Natural History
study. During my internship at the University of Minnesota, I was fortunate to be
able to train with Dr. Elsa Shapiro, a recognized expert in pediatric neuropsychology and lysosomal storage diseases. I
worked with many children with LyAs a paediatric neuropsychologist, I un- sosomal Storage Diseases, with excellent
derstand the usual anatomy of the brain
mentorship from Dr. Shapiro. She helped
and how a child typically develops. I also me to realize the importance of neuropsyunderstand how different diseases may
chological evaluation for this population in
impact brain anatomy and development. particular, and the necessity of clinical
Most importantly, I use this information to research to investigate new treatments
I completed the general training to become a psychologist (PhD in psychology
at the University of North Carolina, with a
1 year clinical internship at the University
of Minnesota). Following that, because I
decided to specialize in paediatric neuropsychology, I completed a 2 year postdoctoral fellowship in neuropsychology at
the Hospital for Sick Children in Toronto.
8
and to determine the long term outcomes
of more established therapies. Most importantly, she helped me to understand
the great optimism and possibilities arising from recent advances in the treatments for lysosomal storage diseases.
During my subsequent post-doctoral fellowship at the Hospital for Sick Children, I
continued to work with children affected
by storage diseases. When the Hospital
for Sick Children expanded its capacity to
help children with storage diseases in
2010 I was honoured to accept the parttime position of neuropsychologist within
the Genetic/Metabolic team, and have
continued to work with children with lysosomal storage diseases since that time.
Through the Motherisk program at the
Hospital for Sick Children, I also complete
clinical neuropsychological assessments,
consultation, and research with children
who have been pre-natally exposed to
alcohol and other drugs and medications.
WHAT INSPIRES YOU?
I am inspired by the success stories of
children affected by lysosomal storage
diseases and by the broader accomplishments within the MPS community. I find
inspiration in hearing about a child’s
short-term individual accomplishments,
such as successfully advocating for special education support or having three
consecutive days without the parents receiving a phone call from the school
about their child’s behavior. Also inspiring are the successes in the MPS community in advocating for funding for Enzyme Replacement Therapies and the
advances in the treatment of MPS diseases. I find it very rewarding, both professionally and personally, to be able to
contribute, in some measure, to these
successes. I have a great job: I’m able to
share these successes with families, and
to stay in contact with the children and
their families during their journey.
MEDICAL ADVISORY BOARD MEMBER PROFILE: EVA MAMAK
TELL US A LITTLE BIT ABOUT
YOUR FAMILY:
WHAT ARE SOME OF YOUR
PERSONAL INTERESTS?
I grew up, and went to school, in the
former City of Etobicoke (now a part of
Toronto). My family and many of my
friends still live in the area. While I enjoyed and benefited greatly from my
postgraduate training in the US, I was
very happy to return to Canada, and to
be closer to my family and long-time
friends.
I enjoy hiking, especially hikes when
we can find some of the many waterfalls around southwestern Ontario. I
love discovering new music, and enjoy
spending time with friends. I also enjoy
reading, running and cooking.
WHAT WOULD WE BE
SURPRISED TO LEARN ABOUT
YOU?
I have always enjoyed cooking, but recently began taking a part-time course
at George Brown College at the professional (chef) level. It is a terrific complement to my professional life, and is a
wonderful creative outlet.
HAPPY BIRTHDAY!
OCTOBER
Billy Dumont – October 9, 1987 – MPS III D
Christopher Fitzgerald – October 24, 1993 – MPS IV A
NOVEMBER
Justin Pierre Massicotte – November 1, 2006 – MPS I H
Olivier Bilodeau – November 3, 1995 – MPS IV A
Yusuf Idris - November 18, 1998 – MPS II
Justin Van Herrewegen – November 19, 1981 – MPS VI
DECEMBER
Mathew Gilhuis – December 3, 2008 – MPS III B
Rachel Gilhuis – December 5, 2008 – MPS III B
Line Chartier – December 19, 1970 – MPS IV A
We cannot print your child’s name on our Birthday list without your consent to do so. We must receive this consent every
calendar year. If you would like your child’s name to appear on the Birthday list, please indicate your consent on the current
year’s membership form or on your online profile. If we have inadvertently missed wishing someone a Happy Birthday, please
let us know and we will make sure their name is added to the Birthday list in the next edition of the Connection.
9
WE GRATEFULLY ACKNOWLEDGE OUR DONORS:
Canada Pension & Benefits Institute
(honorarium for Neil Lloyd)
Ruth Goff
Aubrey Hawton & Michael Snively
Darren & Pamela More
Carrie Nimmo
William Parker
Rotary Women's Association
Wendy Taylor
Laura Watson
In Memory of Matthew Di Ilio
In Memory of Gayle Purcell *
In Memory of Andrew Perry
Heather Cehak
Ilse Cehak
Joslin Kobylka
Nancy & David Johnson
John & Dawn Williams
Pat Steeves
Cecilia Burgart
Bing Thom Architects, Inc.
Manawaka Book Club
Mr. and Mrs. Kurt & Erica Cehak
Margaret Thompson
Catherine McDermott
Albert & Margaret Barrie
Valerie & Victor Durman
Kuts & Carol Shoji
Frances Vince
Steve Sachs
In Memory of Scott Burns
Elizabeth Craven
Karen & Mark Campbell
Fran Morin
Ardean & Robert Fleming
Paul & Jackie Vanden Broek
Jeanne Lewis
John Pretty
James & Elizabeth McAlpine
Martin & Eileen Smith
Heather Wighton
In Memory of Sarah Gilhuis
Robert & Lori Di Ilio
Kaitlyn Di Ilio and St. Augustine Catholic
School
In Memory of Damien Kaweski **
Laurel Jensen
Barbara Ann Vyse
In memory of Valda Campbell *
Heather Cehak
In memory of Gertraud
Malschewski *
Ilse Cehak
In memory of Earl Righi & Keith
Young
In Honour of Trey Purcell *
Linda Bee
MPS II Research Fund Donors
In Honour of Abigail Wighton
Paul & Jackie Vanden Broek
Vancouver MPS CUP Donors
In Memory of Peggy Johnson
Peter & Diane Casey
Linda Jones
Carrie Nimmo
Chris Zimmerman & Emily Burch
PD Perimeter Drainage Ltd.
Donald & Charlotte Buckle
Ron & Cheryl Carriere
Toronto MPS CUP Donors
Diana & Ron Richmond
Linda Kitchen
Julia & John Gerbrecht
Dawn Ann Webster
Irene Gibson
Emily White
Michael Symon
Brian J. Sobie
NHLPA
Shire Human Genetic Therapies (Canada) Inc.
The Sanfilippo Children's Research
Foundation
Glen Abbey Golf Resort
Phantom Screens/Ontario Screen Systems Inc
Canlan Ice Sports
Brant Mutual Insurance
SC Johnson Canada
McLean Sherwood Event Rental
Ken & Maureen MacDonald
Melissa & Carlos Santos
Jamie Martin
Patrick Brown MP
Walter Gretzky
Jennifer Clark
Tammy Burdett
Shire Human Genetic Therapies (Canada) Inc.
NHL Alumni
Naa Sheka Clothing (West African Fashion)
Miller Thomson LLP
Nestle Canada Inc.
Starbucks Coffee Company
Sonoco Canada Corporation
Kosmetique
Highroad Communications
Sutton Place Hotel Toronto
Maple Leafs Sports & Entertainment Ltd.
Judy Byrne
Catherine & Jim Fowler
10
Judith & James Anderson
Darryl & Jeryl Auten
AWM Productions
Doug Craik
Peter & AnneMarie DeLuise
Nazim Edeer
Pat Hesketh
Nancy & David Johnson
Duncan MacDonald
Susanne MacDonald
Angelique Mialon
Pemberton Insurance Corporation
Clete & Krista Purcell
Anthony Reynolds
Allen & Linda Smythe
Krista Stumph
WE GRATEFULLY ACKNOWLEDGE OUR DONORS:
Carol Wagner
Elizabeth Werner
Peter & Sharon Willemse
Rivka Ziskrout
A Time to Sing, Dance and Laugh
Although our hearts ache, we know
It had to be this way,
MPS IVB Research Fund Donors
For God said “Child come with me
Patti & Antonio D'Odorico
David Tung
It is time for you to play.
Your life on earth wasn’t easy
Steps to a Cure Donors
See page 27 for a full list. Partial proceeds
from the Steps to a Cure event were allocated to the MPS II Research Fund; the rest
were allocated to the Society’s general fund.
But you served your purpose true.
Now you get to do the things
A little girl should do.
* indicates donations were allocated to the
MPS II Research Fund
Sing! Dance! Laugh!
** indicates donations were allocated to the
MPS IV B Research Fund
You are free now little one!
Your time on earth was short
But your life has just begun.
Lift your wings and soar
O’er heaven’s wondrous plains.
Remembering our
Your pain you’ll bear no more
Children:
And all that is mine you’ll gain.
Hopscotch on streets of gold
A tea party with angels you'll have
Climbing trees and picking heaven’s flowers
It is time to sing, dance and laugh!
Maxwell Alexander Settari
April 22, 1990–December 22, 1993
Our hearts will ache with your memory.
The why’s we won’t understand.
“All is well,” God said. “Please trust me.
It’s all part of a wonderful plan.”
Niemann-Pick Disease
-A poem for Sarah Gilhuis, submitted by her grandparents Ron & Diana Richmond
11
IN MEMORY OF SARAH RICHMOND GILHUIS
chair. By year two we had found
an excellent setting for Sarah in a
As I begin telling Sarah’s legacy of love highly specialized class in a nearby
and laughter I recount a journey to be
city. She had a dedicated teacher
cherished as it impacted literally hunand staff who understood her disdreds of lives and made my wife, Diana, ease, and came to love her daily,
and I so appreciate the impact of special even visiting her in the final days of
children.
her life and delivering her eulogy.
The irony of it all - Diana and I fostered The classroom was a myriad of
for 15 years and we always said we were hands on appropriate activities.
not up to the task of mentally challenged The “snoozalen” room had dozens
of intriguing activities for Sarah
kids. Did God ever have a surprise for
from a ball pool to objects that,
us!
when touched, changed colour brilOur granddaughter Sarah was born a
liantly and all to the sound of music
beautiful bouncing blonde haired bluethat Sarah so dearly loved. We
eyed baby girl on December 4th, 1997.
were so fortunate to have Sarah in
Oh the anticipation of life ahead! I could the same class with the same
see this beautiful blonde breaking many
teacher for eight years. She was
boys’ hearts in her teens. She did but in about to have her graduation pica very different way than we expected. At tures taken when she became ill.
about 3 months of age she developed
School became one of the loves in
colic and literally cried full time for 6
Sarah’s life.
months. I took early retirement and
Sarah had many loves in her life.
sought cures even on the internet. One
One
was a love of music. Even to
such cure stopped her breathing and she
the last week of her life she would
needed CPR!
smile when she had her earphones
A beautiful calm period followed for a
on and “Johnny Cash” playing very
Sarah Richmond Gilhuis
few months. As a bouncing 2 year old
loudly. As many Sanfilippo kids do,
she walked and talked, loved animals and Sarah loved Barney and the WigDecember 4, 1997 - February 26, 2011
the outdoors and often chewed on
gles. We even arranged for her to
“papa’s” ear usually drawing blood. Soon meet the Wiggles in person at a
however her behaviour changed dramati- concert. Two of them came off the stage
cally and she began to lose speech. After and sang to her in her wheelchair. Sarah slopes to buying an extra suitcase to
carry all of her purchases at the
many trips to many doctors and incorrect met Barney at Disneyland, with her par“shopping mall in the sky”. She travelled
diagnoses, Sarah was diagnosed with
ents and Aunt Janette but she found him
to the North and South to Florida. May of
MPS IIIB by a hospital in London, Onscary in person.
our fondest memories are trips with Sarah
tario. Our lives were forever changed. I
Sarah loved to travel. When we placed and her brother Ben and Aunt Janette.
went back to work as we knew her expenses would be great. Christmas 1999 her up in a captain’s chair of a big van
Respite becomes a necessary and inteand began a journey she was in her elewas a time to gather our family and plan
gral part of each Sanfilippo child’s jourment. Travel was calming to her. Sarah
for the future. Sarah’s behaviour
ney. Sarah had a love for her weekend
traveled with us to the East Coast three
changed dramatically. Restaurant visits
parents. Without periodic breaks, Diana
times. She often spent weeks in PEI or
were culminated by mashed potatoes
and I (caregiver grandparents) could not
flying across the room, carefully aimed at on the Cabot trail. These were happy
have survived. We were so fortunate in
times and we have hundreds of pictures.
other patrons. Papa would rush Sarah
having two special families share Sarah’s
For a conference in Vancouver, partly
out to the vehicle while grandma tried to
remarkable journey. Debbie is a family
paid by the Canadian MPS Society, we
explain and clean up.
friend that we used to babysit. She and
chose to fly as Sarah was not able to
School began as an impossible journey. walk or assist with her care. That trip we her East coast husband, along with two
daughters, gave Sarah a great time along
We were encouraged to put Sarah in a
took Sarah to Whistler for a few weeks.
the St. Clair River and at a great church
“regular” classroom. What a disaster!
She was game for all the activities, from
one weekend a month. For two weekSarah regularly pulled hair, turned over
greeting a black bear on a hummer ride to
ends a month Kathy and Steve Stephens
tables, bit the teacher, and ended in the
taking a gondola ride to the top of ski
provided a special home away from home
principal’s office secured in her wheelDear Friends,
12
IN MEMORY OF SARAH RICHMOND GILHUIS
for Sarah. Special equipment became
part of their home and Steve was ingenious about inventing and adjusting everything from custom “Sarah swings” to lazy
boys meant to accommodate Sarah’s
needs. They became her “extra set of
parents”. Every Sanfilippo child needs to
seek out a special family to be “extras” as
needed! We were
so fortunate to
have Aunt Janette
home most of the
time to help to
share Sarah’s care
and her love.
Sarah loved
swinging for her
entire 13 years. In
warm weather,
Diana and Sarah
would swing together for hours on
end on our deck.
Steve Stephens
designed special
swings for Sarah
when she could no
longer hold on to
the ropes. Swinging was a passion
in her life.
Sarah loved holding hands. Some
of my most precious moments with her were as she held
my hand tightly and stared at me with
love beaming from those beautiful blue
eyes. Even to the last week of her life
Sarah could squeeze your hand.
Sarah loved people. As we walked
Sarah in her wheelchair down a street, in
many different towns, people would come
up and talk to her. We would have to ask
how they knew Sarah. Her loving eyes,
infectious smile and mischievous ways
impacted the lives of hundreds of people.
Often family members and caregivers
alike spoke of Sarah helping them
through difficult times. Sarah would listen
to all their problems and confessions and
never repeat a word to anyone. She was
an extremely effective councillor.
After Sarah’s diagnosis we got to know
Dr. Clarke in Toronto. He was not only a
great physician but a source of counsel
and assurance. Dr. Clarke made the
journey much easier for us all. As he
moved to Quebec, Dr. Raiman continued
the tradition even down to Sarah’s last
couple of days. Sarah, after her initial
colic, never
cried. We
thought that she
wasn’t capable
until one summer we had an
alarming turn of
events on a boat
ride and she
demonstrated
that she could
actually cry.
She showed
pain in facial
expressions and
tear drops but
chose not to cry.
What an amazing young lady
she grew to be!
Sarah’s final
leg of her journey began on a
Sunday morning
in an emergency
room, with a diagnosis of pneumonia. An ambulance
ride to another city was necessary by
noon. That night because of a violent
snowstorm we were not able to move her
to London or Toronto. The decision was
made to bring her home the next day.
Although we thought we had plans in
place for this, it turned into a nightmare
until we had a member of parliament intervene. By Tuesday Sarah was home in
her own room surrounded by family and
friends. All 21 of our immediate family
were here for the week.
Saturday evening the Lord took her
home peacefully to be with him. There
was no local funeral home large enough
for the service. Monday at noon several
hundred people said their goodbyes at
our home church. She lay in state just a
13
few feet from where she often was on a
Sunday morning. Diana (grandma) had
put on her moccasins for her final journey. Along with many family and friends
who gave eulogies, her uncle John, who
was especially close to her, gave descriptions of Sarah’s impact on many lives.
Sarah’s teacher of eight years wrote a
eulogy that was read by one of her long
time aides. Her school must have been
empty as five staff and aides were at her
final farewell. The school has initiated a
grade 8 graduation award in her honour.
Sarah Janette Richmond Gilhuis
touched hundreds of lives. We are all the
better for having met this beautiful and
brave young lady. Life was brief but each
moment was lived to the fullest. As her
10 year old brother Ben says, “When we
meet her again she will be walking talking
and dancing”.
Love you, Sarah.
“Papa” Ron
Richmond
FAMILY NEWS
THE MORE FAMILY
It was only April of this year when we
heard the three letters that would forever
change our world – MPS. Like many of
you reading this, these three letters were
something we had never heard before our
son Jasper’s diagnosis. We struggled to
understand their meaning and to figure
out how we were going to deal with all of
the information and emotions that were
suddenly and quite unexpectedly thrown
our way. When we looked at the face of
our beautiful little boy, we no longer saw
what we had seen even the day before
but now we found ourselves searching his
precious face, body and movements for
signs and clues, analyzing his every
move and word to see if we could pinpoint which type we were dealing with
and how severe and quickly the disease
was progressing.
analysis but see our
Jasper again. We
see ways we can
fundraise to find a
cure, we see people
that we never would
have met if it wasn’t
for this disease and
we continually
search for ways to
make Jasper’s journey positive and life
changing for everyone he touches.
It is now September and when we look
back on the roller coaster ride we have
been on since that day in April we are
amazed at how far we have come. It took
until July for our team of Doctors at London Health Sciences to determine that
Jasper has MPS VI and it was August
when we began to apply to the Ontario
government for Enzyme Replacement
Therapy. We were initially denied funding
but with the help and support of The
Isaac Foundation and many family and
friends we appealed the decision and
funding has been granted. For this we
will forever be thankful.
We have had numerous ups and downs
in the past few months but continue to be
amazed by the support we are receiving
from family, friends, co-workers, community, doctors, church and our new MPS
family. As we anxiously await Jasper’s
first ERT appointment we feel blessed for
Jasper to have received the chance for
treatment and what it will mean for his
life. We no longer look at his every
movement in search of answers and
Darren, Pam,
Daphnie, Clayton
& Jasper More
Above: Jasper (MPS VI) with his mom Pam, dad Darren, sister
Daphnie and brother Clayton; below: Jasper the lion!
14
IN THE NEWS
ONTARIO GOVERNMENT APPROVES LIFE-SUSTAINING
TREATMENT FOR AILING BOY
Ministry of Health Denies Funding On Monday, Approves on Thursday
This press release was issued by The Isaac Foundation. The Society thanks the McFadyen family for helping to generate a
huge amount of media coverage in Ontario around Jasper’s desperate need for treatment and for providing an incredible amount
of support to the More family.
The Ministry of Health and Long Term Care
has reversed a decision made earlier this week
regarding funding for a life-sustaining treatment required by a Palmerston, Ontario boy.
Jasper More, 2 ½ was originally denied the
funding required to treat his rare disease,
MPS VI, even though it had already been
approved for another Ontario child. More’s
family appealed the decision this morning and
learned late this afternoon that funding for his
treatment would be approved.
Jasper’s father, Darren reacted to the news
with elation. “When I received the call from
our healthcare team, it literally took my
breath away. It is such a relief to have this
approved."
Approval for treatment means that Jasper can
now begin to prepare for the much-needed
infusions immediately, and the significance of
the moment hasn’t been lost on Jasper’s
mother, Pam. “My son has been given the
chance for a bright future. The chance that
every little boy or girl should have. For this I
am truly thankful.”
Andrew McFadyen, director for the Isaac
Foundation, was pleased to hear the news.
However, he noted what this case illustrated
to him. “To me, this clearly shows the need
for a National Orphan Drug Policy, something I hope will take centre stage immediately. Families dealing with rare disease
shouldn’t have to have put their children on
the front page of newspapers to receive the
treatment they deserve. I applaud Health Minister Deb Matthews and Premier Dalton
McGuinty for taking a leading role here, and
for paving the way toward a National
Strategy for dealing with rare diseases.”
BACKGROUNDER
Jasper suffers from a rare enzyme deficiency
called MPS VI (also known as MaroteauxLamy Syndrome). Sufferers of MPS VI lack
an enzyme in their blood that breaks down
cellular waste in the body called glycosaminoglycan (GAG). These GAGs build up in the
bones, tissues, organs, and muscles of affected individuals and lead to many devastating symptoms including heart and airway
disease, corneal clouding, stiffening of the
joints, shortened stature, and premature death.
To date, there are 8 confirmed cases in Canada and roughly 1,100 worldwide. While
there is no known cure for MPS VI, a treatment does exist. Naglazyme is an EnzymeReplacement Therapy (ERT) designed to provide patients with a synthetic version of the
enzyme they are lacking by infusing small
doses into the patient’s bloodstream on a
weekly basis.
mended as treatment of choice for this condition.” (Giugliani et al., 2010)¹. Currently,
Naglazyme has been approved in numerous
countries worldwide, including the United
States, the European Union, and Australia.
In Ontario, there is precedent for the lifesustaining treatment to be funded. The parents
of 7 year-old Isaac McFadyen, residents of
Campbellford, Ontario, successfully lobbied
the Ontario Government to fund the expensive Enzyme Replacement Therapy for him
when he was diagnosed in 2006. After a very
public campaign to secure funding, Isaac has
been receiving his weekly infusions at The
Hospital For Sick Children in Toronto for 5
years.
Though the treatment does not provide a cure
for those affected by the disease, it has been
proven to slow the progression of MPS VI in
patients. A summary of 3 independent clinical
trials and treatment guidelines by Dr. Roberto
Giugliani (2010) describes benefits such as
improvement in walking and stair climbing
tests, improvement in MPS VI-related bone
disease, as well as improvement in growth of
children receiving ERT. “ERT is recom-
1. From: Giugliani, R. et al. (2010). Mucopolysaccharidosis I, II, and VI: Brief review
and guidelines for treatment. Genetics and
Molecular Biology, 33(4), 589-604.
Prior to starting treatment, Isaac suffered
from severe compression of his spinal cord
that required the removal of a piece of his
skull and a portion of his vertebrae. In addiProduced by Biomarin, the treatment for this tion, Isaac endured numerous other surgeries
orphan disease can range from $300,000 per to treat complications of the advancing disyear for a small individual to $1 million per
ease in his body. Since beginning his weekly
year for a young adult. Due to the lack of an
infusions, Isaac’s liver and spleen have reorphan drug policy in Canada, Naglazyme is duced back down to a normal size, his rate of
only available to Canadian patients through
growth has increased, his heart function has
the Federal Government’s Special Access
improved, and his heart valve disease has
Program (SAP). It is being used for patients
stabilized. In addition, Isaac has had no furin Ontario, British Columbia, and Quebec
ther progression of his bone and joint
through the SAP and is funded by the Provin- disease, airway disease, and compression of
cial governments respectively.
his spinal cord.
15
ADVOCACY
ENZYME REPLACEMENT THERAPIES
COLLABORATION
entations on innovative and sustainable
approaches to treating, researching, and
funding rare disorders, how patient orThe Society continues to collaborate with
ganizations can take an active role and
other Canadian rare disease organizapush the treatment boundaries, how best
Since enzyme replacement therapies
tions and with international MPS societies
to apply health technology assessment
(ERTs) for MPS I and MPS II have not
to reach common goals. The Society was
technologies (HTA) to rare disease treatbeen recommended for funding by the
well-represented at the recent “Tipping
ments, where we’re at in terms of a profederal Common Drug Review (CDR), it
Point for Rare Disorders in Canada”
posed Orphan Drug regulatory framecontinues to be up to provincial, territorial, meeting organized by Canadian Organiwork. A summary of the proceedings will
and federal funders to either follow those zation of Rare Disorders (CORD). The
be available on the CORD website soon,
recommendations or fund these treatmeeting, which took place September
and for now all the meeting presentations
ments regardless. ERT for MPS VI has
15th and 16th in Toronto, featured presare posted at www.raredisorders.ca.
not yet been submitted for regulatory approval by Health Canada, so is only available through the Special Access Program
(SAP) and applications are reviewed on a
case-by-case basis. Patients in several
provinces are receiving funding for ERT,
but others are not. The Society is committed to assisting patients receive the treatments they need and deserve. Please
contact us to find out what we can do to
help.
DISEASE CARE AND
MANAGEMENT
The Society is also here to help assist its
members in accessing services and care
to aid in overall disease care and management. We have DVDs, booklets, fact
sheets, and PowerPoint presentations
available and are happy to speak with or
write to teachers, community support
workers or allied healthcare professionals
in order to provide information that may
be beneficial.
Kirsten Harkins (left) & Judy Byrne (far right) with Durhane Wong-Reiger, (CORD)
Steven Long (Alberta Health & Wellness) & David Lee (Health Canada)
The Priest family invites you to attend the MPS IV B Journey of Hope's
"An Evening in Italy"
Saturday, October 22, 2011 - 6:00 PM
Executive Airport Plaza Hotel and Conference Centre, Richmond, BC
Proceeds will benefit the Canadian MPS Society’s MPS IV B
Research Fund. For more details, please visit www.morquiob.com.
16
UPCOMING CONFERENCES & EVENTS
UPCOMING CONFERENCES
& EVENTS:
For more details on these events, please visit
www.mpssociety.ca:
October 16, 2011: Scotiabank Toronto Waterfront Marathon; Toronto,
Ontario. Join Team MPS to stroll, jog or run for a brighter future!
October 22, 2011: MPS IVB Journey of Hope’s ‘An Evening in Italy’;
Richmond, BC; Visit www.morquiob.com for event details and ticket information.
February 8-12, 2012: WORLD Symposium, the annual research meeting
of the Lysosomal Disease Network; San Diego, CA, USA. For more information visit www.LysosomalDiseaseNetwork.org.
February 29, 2012: International Rare Disease Day; celebrate this “rare”
day for unique and amazing people! More details to follow on how you can
take part.
Invitation to the Netherlands!
May 15, 2012: International MPS Awareness Day - consider holding a
Canadian MPS Society Jeans Day or celebrate the day in any way that is
meaningful to you and your family. Check our website for more information.
June 28-July 1, 2012: 12th International MPS Symposium; Noordwijkerhout, The Netherlands. See the second announcement and invitation on
We have great pleasure in inviting you all to the
this page and visit www.MPS2012.eu for more information. The Society
12th International symposium on MPS and related will be providing a limited number of travel bursaries to families wishing to
diseases, which will be held in Noordwijkerhout, the attend. More information will be sent out to members with the winter newsNetherlands, from 28 June to 1 July 2012.
letter.
By bringing patients, parents and families together
July 27-29, 2012: The Canadian MPS Society’s National Family Conwith professionals, the symposium will be able to
ference; The Nottawasaga Inn, Alliston, Ontario. Save the date!
share information on all aspects of MPS and related disorders. The overall objective is to advance
the quality of care and treatment.
Dear friends and colleagues,
As well as musculoskeletal disease and MPS, the
brain and MPS, and new approaches to treatment,
the main topics of the symposium will be pricing
and reimbursement. All will be covered in joint sessions attended by doctors, scientists, patients and
patients’ families. Separately, doctors and scientists will also attend more detailed sessions on the
CNS, bone disease and novel approaches to treatment.
The symposium will be held at the four-star NH Leeuwenhorst conference
center in Noordwijkerhout, which is approximately 20 minutes from Amsterdam Schiphol airport and 30 minutes from the city of Amsterdam. Noordwijkerhout lies very near to a coast with long sandy beaches, and various major cities and sites of interest are within easy reach. Special activities will be
organised for young patients and their siblings, who will be accompanied by
trained volunteers.
On behalf of the organizing committee, we look forward to welcoming you to
Noordwijkerhout next June,
Families will not only have opportunities to meet
Frits Wijburg
peers from other countries, but will be able to attend sessions on optimizing care, dealing with clini- Ans van der Ploeg
cal issues and surgery in MPS, and ‘living fully with Hanka Meutgeert
17
TREATMENTS & CLINICAL TRIALS
MPS I:
Aldurazyme (laronidase) enzyme replacement therapy (ERT) was licensed
for use by Health Canada on May 31,
2004, for long-term treatment in patients
with a confirmed diagnosis of MPS I, to
treat the non-neurological manifestations
of the disease. For more information,
please visit www.aldurazyme.com.
The Los Angeles Biomedical Research
Institute at Harbor-UCLA Medical Center
in Torrence, California, and the University
of Minnesota are collaborating on three
studies of intrathecal enzyme replacement therapy (ERT) for patients with
MPS I:
MPS I Intrathecal ERT for Spinal Cord
Compression:
Enzyme replacement therapy (ERT) has
been developed for MPS I. ERT helps
many physical ailments due to the disease, but does not treat the central nervous system due to inability to cross the
blood brain barrier. The purpose of this
study is to test delivery of ERT to the spinal fluid via intrathecal (IT) injection in
patients with MPS I to find out whether
giving ERT directly into the spinal canal
can help reduce spinal cord compression
and provide an alternative to surgery.
have MPS I. The term “cognitive decline”
refers to a change for the worse in the
ability to think and learn.
Study participants will have:

up to 10 treatments given one to
three months apart over two years
(treatment group) or four treatments
given three months apart beginning
at month 12 (control group)

physical examinations (general and
neurologic)

neuropsychological testing for cognitive decline and MRI of the brain

reimbursement of travel expenses
Additional information can be found at
www.clinicaltrials.gov; search under
“mucopolysaccharidosis” or contact
Principal Investigator Dr. Patricia Dickson
at 310-781-1399 or pdickson@ucla.edu.
placement therapy (ERT) was approved
by Health Canada for the treatment of
MPS II. For more information, please visit
www.hunterpatients.com.
Shire MPS II Intrathecal Study:
Dr. Joseph Muenzer is conducting a
Phase I/II (Safety/Dosage) trial using intrathecal ERT for the treatment of MPS II,
with a goal of preventing central nervous
system involvement. This study is taking
place at the University of North Carolina
in Chapel Hill, NC. If you are interested in
obtaining more information about the
clinical trials, please contact Dr. Muenzer
(919)966-1447, or study coordinator
Heather Preiss at (919)843-5731 or
hpreiss@med.unc.edu.
MPS III:
A Phase I/II Study of ERT for MPS IIIA:
Shire Human Genetic Therapies is developing a sulfamidase enzyme replacement
The University of Minnesota in Minneapo- therapy (ERT) for patients with MPS IIIA.
lis has obtained FDA approval for the de- rhHNS is being administered into the
livery of laronidase into the spinal fluid of cerebrospinal fluid (CSF) via a surgically
children with MPS I (Hurler syndrome)
implanted intrathecal drug delivery device
being considered for marrow/cord blood
(IDDD), because when administered intransplantation. The goal of these studies travenously (IV) it does not cross the
is to decrease the neurophsychologic
blood brain barrier (BBB).
decline that has been observed in chilThis study is a multicenter, multiple-dose,
dren with Hurler from the time the padose escalation study designed to evaluStudy participants will have:
tients are initially evaluated to the time
ate the safety, tolerability, and clinical
they are one year from transplantation.
 up to 16 IT ERT treatments given one The study will involve four doses of laroni- activity of up to 3 dose levels (2 doses [10
to three months apart over one-and- dase given during a lumbar puncture ap- and 45mg] monthly and 1 dose [45mg]
every other week for 6 months) of rhHNS
a-half years
proximately three months before transplantation, at the time of admission to the administered via an IDDD in patients with
 physical examinations (general and
Sanfilippo syndrome Type A ages greater
hospital for the transplant, three months
neurologic)
after the transplant, and six months after than or equal to 3 years of age.
 other diagnostic tests
the date of the transplant.
The phase I/II clinical trial is planning to
enroll 15 patients. The study is expected
 reimbursement of travel expenses
Principal Investigator Dr. Paul Orchard
can be contacted for more information at to be completed March 2012, and the
duration of the study for each patient is
612-626-2961 or orcha001@umn.edu.
MPS I Intrathecal ERT for Cognitive
nine months. The Phase I / II clinical
Decline:
study is being conducted at two sites:
The purpose of this research study is to
Emma Children’s Hospital, Academic
find out whether giving ERT with
Medical Center in The Netherlands by Dr.
Aldurazyme as an injection directly into
Frits Wijberg and the St. Mary’s Hospital
the cerebral spinal fluid can stabilize or
in Manchester, UK under the direction of
On June 15, 2007 Elaprase enzyme reimprove cognitive decline in patients who
MPS I Intrathecal ERT for Children
Being Considered for Transplant:
MPS II:
18
TREATMENTS & CLINICAL TRIALS
MPS VI:
Drs. Simon Jones and Ed Wraith. Additional information about the clinical trial
can be obtained at www.clinicaltrials.gov
(Identifier: NCT01155778) or by contacting Tiffany Crump at 484-595-8257 or
tcrump@shire.com.
news. In addition, visitors have the option
to register on the website to receive news
about updates via email. Further information about MorCAP (natural history study)
and MOR-004 is also available on
www.clinicaltrials.gov at this link: http://
www.clinicaltrials.gov/ct2/show/
NCT00787995?term=morquio&rank=2.
Genistein Aglycone:
Brian Bigger’s research team from the
University of Manchester’s MPS Stem
Cell Research Laboratory found that
“Genistein may prove useful as a substrate reduction agent to delay clinical
onset of MPSIIIB and, due to its multimodal action, may provide a treatment adjunct for several other neurodegenerative
metabolic diseases.” Please visit our
website for more information.
Editor’s note: There is no word on when
Patients or physicians who are interested
BioMarin will apply for licensing approval
in participating in MorCAP or MOR-004
for Naglazyme in Canada. For more inforcan contact the Society for more informamation, please contact BioMarin Patient
tion.
and Physician Support (BPPS) at 1-866906-6100 or bpps@bmrn.com.
If you have particular questions about
operational aspects of BioMarin’s trials,
you can contact Candice Henkel at
chenkel@bmrn.com or 415-506-6973.
For additional medical questions related
to MPS IV A and the clinical details of
A gene therapy clinical trial for MPS VII,
BioMarin’s program, please contact the
Medical Director for BioMarin’s MPS IV A also known as Sly syndrome, has been
put on hold pending additional data.
program, Celeste Decker, at
cdecker@bmrn.com or 415-506-6469.
A clinical trial of high-dose Genistein
Aglycone will be beginning soon in Manchester (UK), with Simon Jones as the
principal investigator. Frits Wijburg is
also conducting a Genistein study at the
Amsterdam Medical Centre.
Dr. J. M. Heard is currently recruiting patients for a MPS IIIB AAV gene therapy
clinical trial, to be conducted at the institute Pasteur in Paris, France.
MPS IV:
BioMarin Pharmaceutical Inc. has initiated the much anticipated Phase 3 study
(MOR-004) for N-acetylgalactosamine 6sulfatase (GALNS) for the treatment of
Morquio A Syndrome (MPS IVA). Please
visit our website to read BioMarin’s press
release and see page 22 for more details
on trial guidelines. Currently there are
three Canadian sites for this trial: Montreal and Sherbrooke, Quebec and Toronto, Ontario, with the possibility of additional sites in Western Canada.
BioMarin’s MPS IV A program’s website
(www.morquiobmrn.com) is a great place
to look for current information. It will be
updated at least four times per year, and
of course, more often if there is significant
The U.S. Food and Drug Administration
(FDA) granted marketing approval for
Naglazyme(TM) (galsulfase), enzyme
replacement therapy (ERT) for the treatment of MPS VI, on June 1, 2005.
MPS VII:
Please visit our website for information on
treatments for other types of LSDs.
CLASSIFICATIONS OF MPS DISEASES:
People born with mucopolysaccharide (MPS) and related lysosomal storage diseases (LSDs) cannot produce certain enzymes necessary for breaking down and
recycling materials in cells. Consequently, these materials store throughout the
bodies of those with LSDs, causing damage to their hearts, respiratory systems,
bones, joints, and central nervous systems. Affected babies may show no signs of
disease, but as more cells become damaged and storage increases, symptoms
begin to appear.
Syndrome
Eponym
Enzyme Deficiency
MPS I
a-L-Iduronidase
MPS II
MPS III A
MPS III B
MPS III C
Hurler, Scheie,
Hurler-Scheie
Hunter
Sanfilippo A
Sanfilippo B
Sanfilippo C
MPS III D
MPS IV A
MPS IV B
MPS VI
Sanfilippo D
Morquio A
Morquio B
Maroteaux-Lamy
MPS VII
MPS IX
Sly
19
Iduronate sulfatase
Heparan N-sulfatase
a-N-Acetylglucosaminidase
Acetyl CoA: a-glycosaminide
acetyltransferase
N-Acetylglucosamine 6-sulfatase
Galactose 6-sulfatase
b Galactosidase
N-Acetylgalactosamine 4-sulfatase
(arylsulfatase B)
b-Glucuronidase
Hyaluronidase
CLINICAL STUDIES OPEN FOR ENROLMENT
lodging expenses will be reimbursed. No
experimental drug is administered during
the visit. The study comprises a physical
examination of the affected patients,
blood and urine tests, a questionnaire
The Montreal Children’s Hospital is the
concerning medical history, cardiac and
Canadian site for a multinational clinical
study of Morquio disease type A or Muco- respiratory function tests, and endurance
tests.
polysaccharidosis IV type A (MPS IVA)
sponsored by BioMarin Pharmaceutical
BioMarin has also conducted a Phase I/II
Inc. The Morquio A Clinical Assessment
study of an experimental enzyme replaceProgram (MorCAP) is designed to provide ment therapy for Morquio A and its Phase
a fuller understanding of MPS IVA synIII study has recently begun. Please see
drome in preparation of phase III clinical the previous page (page 19) for more
trials of a potential treatment.
details. More information can be found at
MorCAP clinical study for
Morquio syndrome type A
(MPS IV A)
Patients of all ages are eligible for the
MorCAP study. Participation will require
a visit of 2 or 3 days to the Montreal Children’s Hospital in Montreal. Travel and
www.morquiobmrn.com or at
www.clinicaltrials.gov.
the MorCAP study at the Montreal Children’s Hospital or if you want more information, contact GailOuellette, study coordinator, at gail.ouellette@mail.mcgill.ca or
819-543-0550.
Si vous êtes intéressé à participer à
l’étude MorCAP à l’Hôpital de Montréal
pour enfants ou si voulez obtenir plus
d’information, contactez Gail Ouellette,
coordonnatrice de l’étude (courriel :
gail.ouellette@mail.mcgill.ca ou
téléphone : 819-543-0550).
Une version française de ce communiqué
est disponible à www.mpssociety.ca.
If you are interested in participating in
how and how much medical therapy can conditions.
help to improve ocular outcomes over the
Patients from Quebec, diagnosed with
years.
any MPS or Fabry disease are invited to
Sponsored by Biomarin and Genzyme enter into this study. This involves an
Canada, this unique project aims also to annual visit to Dr. Michaud’s clinic at
Université de Montréal throughout the
raise awareness amongst eyecare
next five years. Results of exams will be
professionals about LSDs. With a better
Dr Langis Michaud, o.d. M.Sc. FAAO,
shared with treating physicians. There is
understanding of the diseases and of
associate professor at the École
no cost for the patient to cover the exam
their related ocular manifestations,
d’optométrie de l’Université de Montréal
is proud to announce the official launch of optometrists in the field will be better able fees but there is also no monetary
to screen and refer patients suspected of compensation to participate.
clinical activities related to a unique
having LSDs in a more timely manner.
project: a study on the long-term
Any person interested in more
evolution of ocular manifestations related
information about the study or to plan an
Started less than a year ago, this
to Fabry’s disease and other LSDs such
educational effort has already generated ocular exam can contact Dr. Michaud
as MPS I and VI.
directly at 514-343-6111 ext 8945 or
very good results: 3 new families with
email him at
This study will help gain understanding Fabry’s disease were identified and 12
langis.michaud@umontreal.ca.
patients were referred to a geneticist. At
about the evolution of ocular
this point, 3 of them have been
manifestations among this group of
immediately treated for their conditions
patients. Very little is known about how
ocular manifestations appear and evolve mainly due to major renal dysfunction
Une version française de ce communiqué
which was not diagnosed before. Others est disponible à www.mpssociety.ca.
among affected patients. This study will
will be closely monitored to follow their
also help gain better understanding of
Longitudinal study of ocular
manifestations of lysosomal
storage disorders (LSD) at
Université de Montréal, École
d’Optométrie
University of Minnesota Study:
Longitudinal Study of Bone Disease in MPS I, II, and VI
Dr. Lynda Polgreen, an endocrinologist at
the University of Minnesota, is conducting
a study on bone growth and bone health
in children with MPS I, II, and VI and is
recruiting subjects with MPS I (Hurler),
MPS I (Hurler/Scheie), and MPS II
(Hunter syndrome). She would ideally
like to recruit 3, 7, and 2 more subjects,
respectively, in these disease areas.
years. Travel support is available for
those interested in participating in this
study.
For more information, parents are welcome to contact Dr. Polgreen directly at
This study aims to characterize the
612-624-4469.
bone disease of children with MPS I, II,
and VI by measurements of bone architecture, density, strength and metabolism.
Study participants will be followed over 5
20
CLINICAL STUDIES OPEN FOR ENROLMENT
watch a video. We will be doing two procedures. One procedure is an MRI that
allows us to calculate the volume of various brain structures (volumetric MRI).
The other MRI procedure allows us to
Dear adult with or parent of a child with
visualize the structure in the connections
MPS I, II, or VI,
between one part of the brain and anWe are inviting individuals over the age 6 other (DTI – Diffusion Tensor Imaging).
of with MPS I, II or VI to participate in a
This study will be different than clinical
longitudinal research study seeking to
studies because we are using a more
better understand the brain basis for the powerful magnet called a 3 Tesla scanlearning difficulties sometimes found in
ner. Studies with a more powerful magMPS disorders. You or your child must be net are more sensitive to the details that
over the age of 6 and able to cooperate in we are investigating in this study and are
an MRI imaging study without any seda- just as safe as less powerful magnets.
tion. We are studying the central nervous We will also draw a small amount of
system so that we can better understand blood to measure new biomarkers that
the brain changes in MPS disorders to
are being developed by Dr. Clarke at the
find better ways of treating these probUniversity of British Columbia.
lems.
None of these tests are in any way
The participant will be seen for two
harmful. No embarrassing questions or
sessions in one day, one for neuropsysensitive stimuli will be used in the neurochological testing that will last about two
psychological testing. MRI scans do not
hours to three hours, and the other for
involve any radiation. There are no known
brain imaging which will last for one hour. risks associated with magnetic resonance
Neuropsychological tests will include a
scanning itself. We take care not to scan
brief test of cognitive ability and attention, people with some types of metal in their
and several tests of memory. Some of
bodies (from surgery or accident) and
this testing will be done on a computer.
people with pacemakers or programmaThis testing will be done in the Center for ble shunts should not enter a magnetic
Neurobehavioral Development at the Uni- resonance scanning facility. We will ask
versity of Minnesota. You will also come
you detailed questions about these risks
to the Center for Magnetic Resonance
to ensure that it is safe for the participant
Research. The participant will be placed
to enter the magnet. The blood draw has
on a table in the scanner. Imaging will
usual risks of bruising but it is only about
require lying still for about 30 to 35 minthe amount of two teaspoons.
utes. During this time the participant can
Air and ground transportation and hotel for one night will be provided to the
University of Minnesota, Minneapolis
campus, for two persons.
tions and their families. The purpose of
the study is to determine and document
Charting the Territory is a longitudinal
the clinical progression of the condition
descriptive, correlational study currently
and the associated bio-psychosocialunderway with children 0-19 years who
spiritual experiences of the parents and
are diagnosed with progressive neurologi- siblings age 7-18 years. Approximately
cal, metabolic, or chromosomal condi300 families, both newly diagnosed chil-
dren and those with established conditions, are being recruited in six Canadian
cities.
University of Minnesota Study:
Learning Difficulties in MPS I, II,
and VI
Charting the Territory
MPS III Natural History Studies
Shire Human Genetic Therapies, Inc. is
sponsoring a clinical trial to evaluate the
natural history of Sanfilippo syndrome
Type A (MPS IIIA). Please visit our website for more information about the study,
also called the Surrogate Endpoint Trial
(SET).
The Neurodevelopmental Function in
Rare Diorders (NFRD) Program at the
University of North Carolina at Chapel Hill
is conducting a MPS IIIC (Sanfilippo syn-
21
Please contact Kate Delaney at 612-6251143 (delan011@umn.edu) or Elsa
Shapiro at 612-625-1618
(shapi004@umn.edu) for more information. Thank you for reading this description.
Elsa Shapiro, Ph.D.
Principal Investigator
Professor of Pediatric and Neurology
University of Minnesota
******************************
Editor’s Note: The Hospital for Sick Children in Toronto is also a site for this study
with Dr. Julian Raiman acting as the Principal Investigator. Canadian patients are
welcome to participate in this study at the
Toronto site or, if more convenient, at the
Minneapolis, Minnesota or Portland, Oregon sites.
Please contact the Society for more
Information.
Contact Hal Siden at hsiden@cw.bc.ca
for more information.
drome Type C) natural history study.
Please contact Dr. Maria Escolar to enroll: 919-966-4465. More information
about this study can be found on our
website.
UPDATE ON THE MPS IV B PHASE III CLINICAL TRIAL
As many of our members know, BioMarin
has initiated a Phase III study to determine whether the enzyme replacement
therapy it has developed (BMN 110) for
Mucopolysaccharidosis, type IV A (MPS
IV A, or Morquio A syndrome) is safe and
effective. BMN 110 replaces the enzyme
(N-acetylgalactosamine 6-sulfatase) deficient in those with MPS IV A, and breaks
down the keratan sulfate (KS) stored due
to the enzyme deficiency. Buildup of KS
leads to the limited endurance and mobility, breathing problems, skeletal abnormalities, short stature and joint problems
related to MPS IV A, and as you know,
although treatments are available to manage the symptoms of the condition, there
has been to date no medical therapy
available to treat the underlying cause of
MPS IV A.
The purpose of the BMN 110 study is to
determine whether the drug BMN 110 is
safe and effective in treating the symptoms of MPS IV A and whether it has side
effects. In particular, the study will evaluate the patients’ endurance in walking
and climbing stairs. In the study, patients
will receive weekly infusions of either the
study drug or a placebo (i.e. inactive substance) for 24 weeks. Neither the patient
nor their physician will know whether they
are getting the study drug or the placebo.
pital and the Hospital for Sick Children in
Toronto. Sherbrooke, Quebec is also
accredited to enrol patients, and a site in
Western Canada is a possibility. Canadian patients may be screened for participation at any Canadian site, or may be
able to participate at a site in the United
States if it is closer to their home.
Participation in the study is completely
voluntary and participants are free to
leave it at any time. All aspects of the
study will be thoroughly explained to potential participants during the informed
consent process, and more information is
available at www.clinicaltrials.gov
(keyword: Morquio). Please contact the
Society if you would like to be put in touch Please feel free to contact the Society
with one of the two Canadian study physi- with any questions or comments about
the BMN 110 study or speak with your/
cians.
your child’s physician.
In order to be eligible for this study, patients must:




So far, study drug BMN 110 has been

used in only a small group of patients
during the Phase I/II study, so all the pos
sible risks or unwanted affects remain
unknown; however, most of the common
side effects have been mild or moderate
and have included cough, fever, vomiting,
headache and pain in arms or legs.

There have also been reports of allergic
reactions.

BioMarin is currently recruiting patients
to participate in the BMN 110 study.
There are two study sites currently operating in Canada: Montreal Children’s Hos-
In addition to taking the study drug or
placebo every week via infusion, study
participants will also have to undergo
weekly exams. Most scheduled visits to
the infusion site will consist of a single 6-8
hour day, although a few visits will require
several hours during each of 3-5 consecutive days. Of course, travel to and
from the infusion site will add to the time
spent participating. All reasonable travel
expenses will be provided by BioMarin,
as well as the study drug BMN 110 and
all tests and procedures relating to the
study.
BioMarin has produced a video that highlights some of the issues relating to study
Have a documented clinical diagnosis participation and we will be advising our
members when this video is available for
of MPS IV A
viewing. We may also be offering an eduBe at least 5 years of age
cational webinar or teleconference in the
coming weeks in order to provide more
Be able to meet the study entrance
information on MPS IV A and the
requirements for the 6-minute walk
BioMarin studies, and also to provide a
test
forum to ask questions and discuss conHave never received treatment with
cerns.
study drug BMN 110
Have never had a stem cell transplant
Not have had major surgery within 3
months prior to study entry of
planned major surgery during the 24week treatment period
Not have participated in a study that
involved any investigational drug or
device within the last 30 days
If sexually active, must use birth control, have a negative pregnancy test,
and not be breast feeding or planning
to become pregnant during the study
22
On the following page, you’ll find some
questions you might like to consider if you
are thinking about participating, or having
your child participate, in a clinical trial or
study.
WHAT TO ASK BEFORE PARTICIPATING IN A TRIAL
KEY QUESTIONS TO ASK BEFORE PARTICIPATING IN A
CLINICAL TRIAL OR STUDY:
Taken from The Center for Information & Study on Clinical Research Participation’s website
www.medhero.org:
1. What is the main purpose of this study?
2. Does the study involve a placebo or a treatment that is already on the market?
3. How will the treatment be given to me?
4. How long is the study going to last and what will I be asked to do as a participant?
5. What has been learned about the study treatment and are any study results published?
6. Do I have to pay for any part of the study? Will my insurance cover these costs?
7. Is there any reimbursement for travel costs?
8. Will I be able to see my own doctor?
9. If the treatment works for me, can I keep using it after the study?
10. Can anyone find out whether I’m participating in the clinical trial?
11. Will I receive any follow-up care after the study has ended?
12. What will happen to my medical care if I stop participating in the study?
13. Does the physician/investigator have any financial or special interest in the clinical study?
14. What are the credentials and research experience of the physician and study staff?
CISCRP is an independent non-profit organization founded for the purpose of educating the public, patients, media, and policy
makers in order to promote greater understanding and awareness of clinical research participation and the role it plays in public
health. For more information, contact 1-877 MED HERO or visit www.medhero.org.
CISCRP est un organisme indépendant à but non lucratif fondé à des fins d’éducation du public, des patients, des médias et des
décideurs afin de promouvoir une meilleure compréhension, une meilleure connaissance de la participation à la recherche
clinique et le rôle que celle-ci joue dans le cadre de la santé publique. www.ciscrp.org.
23
RESEARCH FOR A CURE
2011 Summer Studentship
Research Grant Report
Submitted by: Katrin Resch
Supervisor: Dr. Alexey Pchezhetsky
Institution: St. Justine Hospital
Project: Characterization of CNS
Phenotype of MPS IIIC mouse model
This is an excerpt from Ms. Resch’s report. To read her full report and view all
tables, please visit www.mpssociety.ca.
Results
Expression of inflammation markers in
the mouse brain
An increase of approximately 10-12 fold
for the levels MIP1α mRNA was observed
at 2, 4, and 6 months in the brain tissues
of MPS IIIC mice as compared to the
wild-type animals. IL-6 and IL-1β markers
indicated no significant difference between the wild-type and knockout mice.
The 2-month old knockout mice also expressed higher levels of TNFα and
TGFβ1 than their normal counterparts,
but the expression was normalized with
age.
HGSNAT activity is the various tissues of
the KO mice was only between 0 and 1%
of those from the WT controls confirming
that the HGSNAT gene is non-functional
in the knockout mice. In contrast, several
other lysosomal enzymes were increased
in the HGSNAT-/- mice, as compared to
the normal mice. In particular the αgalactosidase activity is increased in the
liver, kidney, brain, and lungs, with the
largest increase observed in the liver. Nacetyl-α-D-glucosaminidase also shows
an increase in the HGSNAT knockout
mice for all organs tested. The brain of
knockout mice shows slightly lower activity of α-L-iduronidase than wild type mice,
but α-L-iduronidase activity is increased
in the HGSNAT deficient mice for all other
organs tested. The activity of βglucosidase is similar in HGSNAT+/+ and
HGSNAT-/- mice, except for in the liver,
which shows an increase of 150-170% in
β-glucosidase activity. The activity of βgalactosidase is only slightly increased in
the affected mice as compared to the normal mice at pH 4.2, whereas a much larger increase is seen at pH 7.5. The larger
increase in β-galactosidase activity at
neutral pH can be accounted for by the
bacterial β-galactosidase gene expressed
as part of the geo marker in the gene trap
vector used to disrupt the HGSNAT gene
in the knockout mice. The highest induction in the knockout mice was observed
for β-hexosaminidase activity. Again, the
greatest increase was seen in the liver,
where the degree of increase in the
knockout mice was amplified with age.
The hexosaminidase activity in HGSNAT
deficient mice is 340% of that of normal
mice at 2 months of age, 570% at 4
months of age, and 700% at 6 months of
age.
Discussion
The results obtained in this study indicate
that similarly to patients with Sanfilippo
disease type C, the mouse model with
targeted disruption of the HGSNAT gene
show little, if an, HGSNAT activity in different tissues, and can therefore be a
valid model of the disease. Activities of
other lysosomal enzymes are for the most
part increased, a frequent characteristic
of several other types of lysosomal storage diseases. It has been shown in particular that the deficiency of one enzyme
involved in the degradation of heparan
sulfate is often accompanied by increases
in others. This has been found for MPS I,
II, III, and VII. The increase in lysosomal
hydrolases may be due to increased biosynthesis, an increased number of lysosomes, and/or stabilization of the enzymes by storage material. The substantially elevated level of hexosaminidase
activity, especially in the liver, of
HGSNAT deficient mice suggests that a
test for increased hexosaminidase activity
in the plasma or white blood cells may
serve as a potential biomarker appropriate for the assessment of disease progression and treatment. Future experiments are required to verify the efficacy
of increased hexosaminidase activity as
an appropriate biomarker. Another feature of the HGSNAT-/- mice is the increased expression in the brain of pro-
24
teins associated with inflammation. In
particular, the expression of the inflammatory chemokine MIP-1α was amplified
by approximately 10 fold in the HGSNAT/- mice. Microglial activation accompanied
by MIP-1α has also been identified in
other forms of MPS and other lysosomal
storage disorders that cause neurological
damage. The significant up-regulation of
MIP-1α suggests that it possesses a critical role in the neuropathophysiological
cascade leading to neurodysfunction. The
increased levels of MIP-1α may be a consequence of the microgliosis and should
be verified independently through immunohistochemical analysis of brain sections. Animal models of lysosomal storage diseases are useful for testing treatment strategies. Once a mouse model
has been generated using the pBluescript
targeting vector containing the P283L
mutation I helped generate, this model
should be useful to further elucidate MPS
IIIC disease progression and the effectiveness of potential treatment options.
Presently, several lysosomal storage diseases can be successfully treated with
enzyme replacement therapy (ERT) or
bone marrow transplantation (BMT).
However, such approaches are not efficient for all lysosomal storage diseases.
For instance, ERT is ineffective for neurological forms of lysosomal storage diseases, as the bloodbrain barrier prevents
the delivery of recombinant enzymes to
the central nervous system. Also, BMT
cannot be used when the deficient enzymes show inefficient transport from
donor hematopoietic cells to the lysosomes of affected cells. A new, recently developed approach called pharmacological chaperone therapy (PCT)
has been suggested in recent studies as
a treatment for diseases caused by mutations that result in the synthesis of proteins carrying amino acid substitutions, as
is the case in the majority of MPS IIIC
patients. Mutant proteins tend to misfold
due to their altered amino acid sequence,
and are retained in the ER and degraded
in the proteosomes. However, molecules
such as competitive inhibitors that mimic
substrate binding in the active site may
work as activesite-specific-chaperones
RESEARCH FOR A CURE
(ASSC), which serve to stabilize the proper
position of active site residues and shift the
equilibrium towards the correctly folded
state of the enzyme. The ASSC is replaced
by the highly accumulated and thus concentrated substrate once the mutant enzyme complex reaches the lysosome, allowing the enzyme to function and resulting
in an increase in residual activity. Clinical
applications of PCT are currently being
tested for Farby, Gaucher, and Pompe diseases. The knock in mouse model of Sanfilippo type C will be useful to test the efficacy of various compounds that may serve
as potential ASSCs for the HGSNAT enzyme.
REQUEST FOR
APPLICATIONS
The Canadian MPS Society
is currently requesting
applications for its
2012 Research Grants:

2012-1: Research into
MPS Disease
(any type of MPS)
2012-2: Research into
MPS II (Hunter syndrome)


2012-3: Research into
MPS IV B (Morquio B
syndrome)
Application forms and guidelines
can be downloaded from our
website: www.mpssociety.ca.
All application deadlines are
February 15, 2012
LYSOSOMAL DISEASE NETWORK (LDN)
RESEARCH UPDATE:
A.) NIH Progress Report. The annual report and request for ongoing funding has
been completed and submitted to the National Institutes of Health.
B.) New Pilot Demonstration Projects. The Lysosomal Disease Network is funding two new Pilot/Demonstration Projects from NIH funds:
1.) "Intravenous N-acetylcysteine for the treatment of Gaucher's disease and
Parkinson's disease"
James Cloyd, PharmD and Paul Tuite, MD, Co-PIs
2.) "Residual cardiovascular risk in mucopolysaccharidosis
Aaron Kelly, PhD., Raymond Wang, MD and Elizabeth Braunlin, MD,
Co-Investigators
The LDN hopes to fund another Pilot/Demonstration Project in the near future.
Please see future announcements regarding the application process.
C.) Lysosomal Acid Lipase (LAL) Deficiency (Wolman, CESD) Clinical Development Program
Visit www.clinicaltrials.gov for more information about the late onset LAL Deficiency (CESD) interventional clinical study http://www.clinicaltrials.gov/ct2/show/
NCT01307098. Sites are enrolling.
Visit clinicaltrials.gov for more information about the early onset LAL Deficiency
(Wolman) natural history study http://www.clinicaltrials.gov/ct2/show/
NCT01358370. Sites are enrolling.
D.) WORLD Symposium:
Save the dates for "WORLD Symposium 2012" - the annual research meeting of
the Lysosomal Disease Network will be in San Diego, CA, USA February 8-10,
2011. Abstracts will be due October 1, 2011 and the abstract submission website
will be open soon. Check the website for additional information:
www.LysosomalDiseaseNetwork.org
Warm regards,
Chester B Whitley, PhD MD
Principal Investigator, Lysosomal Disease Network
Elsa G Shapiro, PhD
Co-Principal Investigator, Lysosomal Disease Network
Brenda Diethelm-Okita
Program Coordinator, Lysosomal Disease Network
David CC Erickson
Informatics Director, Lysosomal Disease Network
www.LysosomalDiseaseNetwork.org
25
EDUCATION & AWARENESS
Thanks to everyone who voted for the Canadian MPS Society’s video in the Gene Screen BC Video Competition!
Our video “Canadian MPS Society: Support for Families. Research for a Cure.” was one of nineteen videos entered to the contest, which culminated in a Screening Gala on September 26, 2011 in Vancouver where the top three videos and the People’s
Choice video were featured. Visit www.genescreenbc.com to view the winning video entitled “18 Things You Should Know
About Genetics” produced by David Murawsky to see if you know all 18 things or if you have a thing or two to learn!
BE A FAN OF THE CANADIAN MPS SOCIETY
ON FACEBOOK!
The Society now has a facebook page and we would love to increase
our fan base! Please “like” us so that you can keep up to date on
Society news and events and add your own posts to keep in touch!
EN FRANÇAIS:
L'édition d'août du groupe des maladies rares au Québec est disponible à http://www.mosaiquemaladies-rares.org/bulletin-aout2011.php.
The August edition of the Quebec Rare Disease Group (Bulletin d’information du Regroupement québécois des maladies orphelines) is available at: http://www.mosaique-maladies-rares.org/bulletinaout2011.php.
$$ Do you know about the Canadian MPS Society’s Family Assistance Program? $$
Grants of up to $1,500.00 are available to individuals or families affected by MPS or a related disease, and can
be used for respite or for emergency or non-emergency costs associated with care and management. View our
FAP guidelines & download an application form at www.mpssociety.ca under “support” or submit the form on
page 29 of the Connection. Please call with any questions—we’re here to help!
26
FUNDRAISING
BAKE SALE AT
STARBUCKS
Alexandra Hunt and many other employees at
Starbucks (Lacewood) in Halifax, put their baking
talents to good use and made several dozen delicious treats which were offered to patrons for a
donation to MPS. It was a chance to tell people a
little about MPS and raise some money. Tinkerbell even showed up to entertain the kids!
Sara Halliday
Halifax, NS
STEPS TO A CURE
On Saturday, August 20th, friends and family of
six year old Ryan Hunt (MPS II) gathered together at Jerry Lawrence Park in Halifax for the
second annual Steps to a Cure, a walk and BBQ
to raise money and awareness for MPS. It was a
beautiful day and attendees enjoyed a walk along
Lewis Lake, lunch, and some even did a little
fishing.
Although Ryan and his family now live in Iowa,
USA, there are still many family members and
friends in Nova Scotia who wanted to do something to help fight for Ryan and all the other kids
suffering from MPS.
Sara Halliday
Halifax, NS
Many thanks to the following Steps to a
Cure Donors:
Louise VanWart
Carrie & Don Bartlett
Jeremy Smith
Teresa Anderson
Carrie & Don Bartlett
Lloyd Berliner
Vicki Clyke
Sara Halliday
David & Ethel Hunt
Jeffrey & Leona Hunt
Patrick & Alexandra Hunt
Robert & Francie Hunt
Dennis James
Paul & Dory Milligan
Tara Nix
27
Wanda Reeves
Robert Hunt & Sons Contracting
Pam Saint
Jeremy Smith
Rosemary Sutherland
Louise VanWart
Linda Ward
PUBLICATION LIST & MERCHANDISE
BOOKLETS & VIDEOS
# OF COPIES
PRICE PER COPY
Family Resource Book - English or French*
4.00
Daily Living with MPS and Related Diseases
2.00
MPS I (Hurler/Scheie Diseases) - English or French *
2.00
MPS II (Hunter Syndrome)
2.00
MPS III (Sanfilippo Syndrome)
2.00
MPS IV (Morquio Syndrome)
2.00
MPS VI (Maroteaux-Lamy Syndrome)
1.00
Mucolipidosis II (I-Cell Disease) and III
1.00
Fucosidosis
1.00
Mannosidosis
1.00
Aspartylglucosaminuria
1.00
Mucolipidosis IV
1.00
Multiple Sulfphatase Deficiency
1.00
Tay-sachs & Sandhoff Disease
1.00
Hearing impairment in MPS Children
1.00
Is your child Having an Anaesthetic?
1.00
Bone Marrow Transplants in MPS Children
1.00
The Pattern of Inheritance
4.00
Choices – When your child is Dying - English or French*
7.00
Video—A Roll of the Dice
CANADIAN MPS SOCIETY LOGO WEAR
TOTAL PRICE
10.00
Sweatshirts (indigo blue with embroidered logo; unisex)
30.00
Total Booklets * all booklets are
in English, except those noted
with an *. Please circle language.
Jean Shirts (denim with embroidered logo; unisex)
30.00
Total Logo Wear
$
Golf Shirts (navy blue; indicate M or W)
40.00
Total Awareness Bracelets
$
Adult T-shirts (royal blue; indicate M or W)
25.00
15.00
Expression of Hope Greeting
Cards ( ____ boxes x $25.00)
$
Children’s T-shirts (royal blue)
TOTAL ENCLOSED
$
Awareness Bracelets (royal blue; S, M, L)
PRICE
S
M
2.00
L
XL
XXL
$
ALL PRICES INCLUDE SHIPPING & HANDLING. Please submit this form with payment or order online at
www.mpssociety.ca - click on “store” to place your order.
Name: _________________________________________________________________ Telephone: ( _____) _____-________
Address: ______________________________________________________________________________________________
City:___________________________________________________ Province _______________ Postal Code: _____________
□ Cheque enclosed or □ Charge my Credit Card #_______________________ Exp:__/__ Signature: _____________________
28
CANADIAN MPS SOCIETY MEMBERSHIP FORM
First/Last Names: _________________________________________________________________________________
Address: _______________________________________________________________________________________
City: __________________________________ Province: _________________ Postal Code: __________________
Telephone: ________________________________ E-mail: ______________________________________________
AFFECTED CHILD’S NAME(S) AND
SIBLINGS’ NAMES
DATE OF BIRTH MEMORIAL DATE
SEX
DIAGNOSIS/
MPS DISORDER
Affected Family:
______$30.00
Enclosed membership payment: $ ________
Relative/Professional/Other:
______$40.00
Enclosed donation:
$ ________
Out of Country:
______$50.00
Total:
$ ________
Would you like your name to appear in our Family Referral Directory (Membership Directory)?
Yes ______ No ______ Initial consent:__________
Would you like to have your affected child’s name appear on the Birthday/Memorial page? Yes ______ No ______
If so, please fill in all information in the above chart, as you would like it to appear.
I am willing to allow the Society to publish pictures of my living/deceased child(ren) on its posters, advertising,
booklets, brochures and the MPS website. Yes ______ No ______
(Please mail/email clear photos. We will return photos if requested.)
Signed:______________________________________________ Date:_____________________
IF YOU HAVE AN AFFECTED CHILD AND CANNOT AFFORD THE $30.00 MEMBERSHIP FEE,
PLEASE INFORM THE OFFICE AND WE WILL WAIVE YOUR FEES.
The Canadian MPS Society is committed to providing support to
families affected with MPS and related diseases, educating medical professionals and the general public about MPS, and funding
research so that one day cures will be found for all types of MPS
and related diseases. Members will receive:
 Four newsletters per year (Spring, Summer, Fall, Winter)
 Our Family Referral Directory
 Our Annual Report
 Access to our Family Assistance Program (Canadian residents only)
 Advocacy support
 All new publications printed by the Society
 Invitations to family meetings and conferences and reduced fees
Please make cheques payable to:
THE CANADIAN MPS SOCIETY
PO Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Please charge my credit card in the amount of $___________
Credit Card #_______________________________________
Name on card ______________________________________
Expiry Date__________Signature_______________________
Registered Charity # 12903 0409 RR0001
29
FAMILY ASSISTANCE PROGRAM
FAMILY ASSISTANCE PROGRAM
FUNDING APPLICATION
Date:_________________
Name:________________________________________________________________________________________________
Address:______________________________________________________________________________________________
_____________________________________________________________________________________________________
Phone: ___________________________________ Email: _____________________________________________________
Name(s) of affected child(ren):____________________________________________________________________________
Amount of funding requested: ______________ (Maximum of $1,500.00)
Please describe what the funds will be used for: ____________________________________________________________
_____________________________________________________________________________________________________
_____________________________________________________________________________________________________
_____________________________________________________________________________________________________
Will the funds being requested be used to pay for part of a larger project or piece of equipment?
(eg. home renovations, wheelchair-accessible van, etc.)
Yes________No_________
If you answered yes to the previous question:
What is the estimated total cost of the project/equipment? _____________
Please list other funding agencies you have applied to for funding for this project/equipment,
and funds received, if any:
_______________________________________________________________________________
_______________________________________________________________________________
□ Estimate(s) included. (Please see the FAP guidelines on www.mpssociety.ca for information on required estimates.)
Signature______________________________________________Date___________________
Thank you for submitting your Family Assistance Program funding application. The Executive Director or a member of the Board of Directors will contact you as
soon as possible to inform you of the Board’s decision regarding your application.
Please visit www.mpssociety.ca or email kirsten@mpssociety.ca for complete Family Assistance Program guidelines.
30
SUPPORT FOR FAMILIES. RESEARCH FOR A CURE.
GOLF ANYONE? Canadian MPS Society golf shirts:
NAVY BLUE; AVAILABLE IN MEN’S XXL, XL, L, M & S;
WOMEN’S (fitted) L, M & S.
$40.00 (includes shipping)
TO ORDER, visit our online store at www.mpssociety.ca
or call us at 604-924-5130 or 1-800-667-1846
Left: Nicklas Harkins (MPS I), his friend Cole Todd, and Orland Kurtenbach,
the first captain of the Vancouver Canucks, at the Canadian MPS Society’s
hole at the 2011 Celebrity Classic Golf Tournament in Maple Ridge, BC.
ORDER YOUR
CANADIAN MPS SOCIETY
AWARENESS BRACELETS!
Our bracelets are royal blue and inscribed with “BELIEVE - MPSSOCIETY.CA”
Our awareness bracelets come in three sizes: large, medium, and small and are available
for a minimum donation of $2.00 per bracelet, plus shipping.
Please place your order through our online store at www.mpssociety.ca
or call us at 604-924-5130 or 1-800-667-1846 and help spread the word about MPS diseases!
“Expression of Hope II” art cards are available for purchase!
These beautiful cards, created by and for the lysosomal storage
disorder community, come in packs of 20 inspiring designs.
View all selected pieces as well as all submissions to Expression of Hope II at
www.expressionofhope.com. Order your art cards for $25.00 by visiting our online store at
www.mpssociety.ca, or by calling 604-924-5130 or 1-800-667-1846.
THE CANADIAN MPS SOCIETY’S TRIBUTE CARD PROGRAM IS A SPECIAL WAY OF
PAYING TRIBUTE TO A LOVED ONE.
Send an MPS tribute card for any occasion as a meaningful gift to support children affected with MPS: to welcome a new baby, to
celebrate a holiday, birthday or anniversary, to memorialize the passing of a friend or relative or to say thank you to someone special.
MPS tribute cards may be ordered by making a contribution of $10.00 or more. Contact the office with your request or donate online.
Sympathy or tribute cards are sent out the same day if possible and income tax receipts are issued.
31
CALLING ALL ARTISTS...IT’S OUR 4TH HOLIDAY ART CONTEST!
The Canadian MPS Society
is holding its fourth annual
HOLIDAY ART CONTEST
and would love to receive
drawings or paintings from your
children.
*Please send us your child’s art by November 15th*
The winning entry will be featured on our Society’s
holiday cards and in our winter newsletter!
All children affected with MPS or related diseases and their relatives are welcome to
participate and all participants will have their names entered to win a $50.00 visa gift card!
Please submit artwork in either hard copy (flat) format to our mailing address or take a
photo of the artwork and submit by email in jpeg format to info@mpssociety.ca.
If you would like to order holiday cards, please do so online at www.mpssociety.ca.
$20.00 for a package of 10 cards, including shipping.
PO Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Phone: 604.924.5130 / 1.800.667.1846
Fax: 604.924.5131
Email: info@mpssociety.ca
www.mpssociety.ca
Charity # 12903 0409 RR0001
Last year’s winning entries:
Top: Markus Gould (8 yrs)
Above Left: Christina Gentle (10 yrs)
Above Right: Jonas Harkins (9 yrs)
32