CLIO Healthcare Awards 2011
Shire's Gaucher Awareness Month: Rejuvenating a Forgotten Rare Disease
Supporting Materials
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Table of Contents
Media Coverage ............................................................................................................................................ 3
Shire launches Facebook page for Gaucher disease month .................................................................... 3
Shire folks want you to "Like" them ........................................................................................................... 3
Gaucher and Velaglucerase Alfa Physician Quote Sheet ............................................................................ 5
Social Media Materials .................................................................................................................................. 7
Number of Views over 30 Day Period (September) .................................................................................. 7
Facebook/Twitter Updates......................................................................................................................... 7
Blog Posts that Appeared on Facebook Page ........................................................................................ 10
Twitter Page ................................................................................................................................................ 11
YouTube Initiatives ...................................................................................................................................... 12
Number of Views over 30 Day Period (September) ................................................................................ 12
Screen Shot of Video (FULL CLIP INCLUDED ON DISC) ...................................................................... 12
YouTube Search (third video in results) .................................................................................................. 13
Gaucher Awareness Month: Google Search .............................................................................................. 14
PR efforts resulted in first four search items ............................................................................................... 14
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Media Coverage
Shire launches Facebook page for Gaucher disease month
By Julie M. Donnelly
September 3, 2010
Shire plc has launched a Facebook page in honor of National Gaucher Awareness Month – a move
designed to link the name of the company, and the name of the rare disease its drug, VPRIV, is treating.
The drug sped to approval in March because the FDA urgently needed to blunt against shortages of a
rival drug, Cerezyme, made by Genzyme Corp.
For every visitor to the Facebook page who “Likes” it, Shire, which is based in the U.K. but has
headquarters for its Human Genetic Therapies division in Massachusetts, will contribute $1 to the
National Gaucher Foundation. So far, the page has 175 “Likes”, but it’s only been three days.
The question is, could an appeal to the masses ever hope to translate into new customers for VPRIV,
which treats a disease that affects only a very small number – 1 in 50,000 – of people worldwide?
Possibly. Because the rare disease is often misdiagnosed or diagnosed very late, greater awareness of
the disease, especially in the health care provider community, could lead to more correct diagnoses and
more potential patients. But right now, Shire doesn’t need more customers. In June, the company
established a waiting list for new patients who want to take the drug, as they work to ramp up capacity in
Lexington.
What Shire does need is to stem possible attrition from its drug as the Genzyme shortage eases.
Genzyme announced last week that U.S. Cerezyme patients will begin to receive their full doses, and
no one knows how many of the 850 patients worldwide now on VPRIV could switch back to Genzyme’s
drug.
Some Gaucher patients are torn between loyalty to Genzyme – the company that put Gaucher on the
map – and appreciation for Shire, which has stepped in to help them when Genzyme could not.
Shire folks want you to "Like" them
By Julie Donnelly
September 3, 2010
3
Shire plc has launched a Facebook page in honor of National Gaucher Awareness Month - a move
designed to link the name of the company, and the name of the rare disease its drug, VPRIV, is treating.
The drug sped to approval earlier this year because the FDA urgently needed to blunt against shortages
of a rival drug Cerezyme, made by Genzyme Corp.
For every visitor to the Facebook page who “Likes” it, Shire, which is based in the UK, but has
headquarters for its Human Genetic Therapies division in Massachusetts, will contribute $1 to the
National Gaucher Foundation. So far, the page has 109 “Likes”, but it’s only September 3.
The question is, could an appeal to the masses ever hope to translate into new customers for VPRIV,
which treats a disease that affects only a very small number - 1 in 50,000 - of people worldwide?
Hmm. Possibly. Because the rare disease is often misdiagnosed, or diagnosed very late, greater
awareness of the disease - especially in the health care provider community - could lead to more correct
diagnoses, and more potential patients.
But right now, Shire doesn’t need more customers. In June, the company established a waiting list for
new patients who want to take the drug, as they work to ramp up capacity in Lexington.
What Shire does need is to stem possible attrition from its drug as the Genzyme shortage eases.
Genzyme announced last week that U.S. Cerezyme patients will begin to receive their full doses, and no
one knows how many of the 850 patients worldwide now on VPRIV could switch back to Genzyme’s drug.
Some Gaucher patients are torn between loyalty to Genzyme - the company that put Gaucher on the map
- and appreciation for Shire, which has stepped in to help them when Genzyme could not.
Like a page, give a dollar: National Gaucher Disease Awareness Month
By Esther
September 21, 2010
Just a quick heads-up: Shire Human Genetic Therapies is donating $1 to the National Gaucher Disease
Foundation for every person who "likes" the National Gaucher Awareness Month Facebook page. It only
takes a click, and you can help a great organization earn up to $10,000!
What is Gaucher disease?
An enzyme called beta-glucosidase is necessary for breaking down a specific fatty substance in the body.
Lack of this enzyme, caused by a mutation in the GBA gene, causes this fatty substance to accumulate in
the bone marrow, spleen, liver and other parts of the body. This can result in anemia, low platelet count,
easy bruising and bleeding, bone pain and bone fractures, even with little trauma.
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Gaucher and Velaglucerase Alfa Physician Quote Sheet
Physician: Dr. Pramod Mistry
Title: Director, Inherited Metabolic Liver Disease Clinic, Attending Physician,
Yale-New Haven Hospital
Specialty: Gastroenterology/Hepatology Pediatrics
Hospital/Institution: Yale/New Haven Hospital
“It has been very difficult managing patients during this shortage period (of Cerezyme). The arrival of
velaglucerase alfa has already helped my patients enormously.”
“I believe we are entering a new era of treatment, where we can treat future generations better than we
have in the past. It is exciting to have velaglucerase alfa as a therapeutic option for patients.”
“Shire is very dedicated, disciplined, and respectful to patients’ and physicians’ needs.”
Physician: Dr. Gregory Grabowski
Title: Director, Division of Human Genetics and Director, Medical Genetics
Training Program
Specialty: Lysosomal storage diseases; molecular enzymology; gaucher
disease; fabry disease; molecular pathogenesis
Hospital/Institution: Cincinnati Children’s Hospital
“I have been working with Gaucher for over 30 years, in the beginning there was nothing to do but to treat
the symptoms. The ERT trials in 1993 were transformational for patients. ERT has radically improved the
life of patients with Gaucher disease.”
“The Gaucher community has gone through an earthquake with the shortage of drug supply and the fear
that the symptoms of their disease may return.”
“The environment is changing, companies need to remember to be hi-tech, but also hi-touch with highly
personalized care.”
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Physician: Dr. Gregory Pastores
Title: Associate Professor
Specialty: Human Genetics; Genetic Diseases of the Nervous System
Hospital/Institution: NYU Langone Medical Center
“The drug supply shortage has altered the landscape of the treatment of Gaucher disease, now we have
more choices and we are ensured there is never an interruption again.”
“We can now get further than we’ve been in the past, now we can see if we can get patients further in
their treatment goals and provide an enhanced quality of life.”
“There is some exciting data out there right now that suggests that the (cellular) uptake could be greater
by two-fold and more efficient for patients.”
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Facebook Initiative
Number of Views over 30 Day Period (September)
Facebook/Twitter Updates
Date
September 1
September 1
(second post)
September 2
September 3
Facebook
September is Gaucher Disease Awareness
Month! We will be posting information about
Gaucher disease every day to spread awareness.
Come back and visit to learn more each day.
Shire will donate $1 to the National Gaucher
Foundation for each person who “likes” this page
during the month of September. Invite your friends
here to learn more about Gaucher disease.
Gaucher is pronounced “go-shay” and is one
member of a family of rare genetic diseases called
lysosomal storage disorders.
Gaucher disease results from a specific enzyme
deficiency in the body, caused by a genetic
mutation inherited from both parents.
September 4
Gaucher disease is an inherited metabolic
disorder in which harmful quantities of a fatty
substance accumulate in certain parts of the body.
September 5
Common symptoms of Gaucher disease include
bone disease, enlarged liver and spleen, anemia,
and low platelet count.
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Twitter
September is Gaucher Disease
Awareness Month! We will share
information about Gaucher disease
every day.
Shire will donate $1 to the NGF for
each person who “likes” our Facebook
page. Learn more about Gaucher
disease here.
Gaucher is pronounced “go-shay” and
is a lysosomal storage disorder.
Gaucher disease results from a
specific enzyme deficiency in the body,
caused by a genetic mutation inherited
from both parents.
Gaucher disease is an inherited
metabolic disorder that leads to the
accumulation of a fatty substance in
certain parts of the body.
Common symptoms of Gaucher
disease include bone disease,
enlarged liver and spleen, anemia, and
low platelet count.
September 6
Gaucher disease is a multi-system disease with a
wide variation in the severity of symptoms.
September 6
(second post)
It is Day 6 of Gaucher Disease Awareness Month.
We have raised XX for the NGF so far!
September 7
In the past, the diagnosis of Gaucher disease was
typically made by examining a patient’s bone
marrow or performing biopsies on the liver or
spleen to look for cells filled with storage material.
Today, Gaucher disease can now be diagnosed
with a single blood test.
Gaucher disease is caused by a recessive gene
on chromosome 1 and affects both males and
females.
Help spread awareness for Gaucher disease
during the month of September! Shire is donating
$1 to the NGF for each person who “likes” this
page.
September 8
September 9
September 10
The features of Gaucher disease range from mild
to severe and may appear anytime from childhood
to adulthood.
September 11
Gaucher disease has an incidence of about 1 in
57,000 live births.
Gaucher disease is named after the French doctor
Philippe Gaucher, who originally described it in
1882.
Gaucher disease has been divided into three
subtypes depending on the presence (or absence)
of neurological involvement.
September 12
September 13
September 14
All three types of Gaucher disease are inherited
as autosomal recessive traits and have equal
chance of affecting males and females.
September 15
We are halfway through Gaucher Disease
Awareness Month and have raised XX for the
National Gaucher Foundation!
Type 1 Gaucher disease is the most common type
affecting 95% of people with Gaucher disease. It
is most prevalent among individuals of Ashkenazi
Jewish descent, although all three types can
affect individuals of any ethnic or racial
background.
Type 1 Gaucher disease is characterized as
lacking central nervous system involvement.
Typical symptoms include bone disease,
enlargement of the liver and spleen, anemia, and
low platelet count.
Type 2 Gaucher disease is characterized by
central nervous system (CNS) involvement and
symptoms are typically present before the age of
two.
September 15
(second post)
September 16
September 17
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Gaucher disease is a multi-system
disease with a wide variation in the
severity of symptoms
It is Day 6 of Gaucher Disease
Awareness Month. We have raised XX
for the NGF so far!
Currently, Gaucher disease can be
diagnosed with a single blood test.
Gaucher disease is caused by a
recessive gene on chromosome 1 and
affects both males and females.
Help spread awareness for Gaucher
disease during the month of
September! Shire is donating $1 for
each person who “likes” the Facebook
page.
The features of Gaucher disease
range from mild to severe and may
appear anytime from childhood to
adulthood.
Gaucher disease has an incidence of
about 1 in 57,000 live births.
Gaucher disease is named after the
French doctor Philippe Gaucher, who
originally described it in 1882.
Gaucher disease has been divided into
three subtypes depending on the
presence (or absence) of neurological
involvement.
All 3 types of Gaucher disease are
inherited as autosomal recessive traits
and have equal chance of affecting
males and females.
We are halfway through Gaucher
Disease Awareness Month and have
raised XX for the NGF!
Type 1 Gaucher disease is most
prevalent among Ashkenazi Jewish
descent, although all 3 types may
affect individuals of any ethnic
background.
Type 1 Gaucher disease is
characterized as lacking CNS
involvement and affects the bone,
liver/spleen, and platelet count
Type 2 Gaucher disease is
characterized by central nervous
system (CNS) involvement and
symptoms are typically present before
September 18
Type 3 Gaucher disease includes CNS
involvement, but is much more mild and slowly
progressive compared to types 1 and 2.
September 19
The prevalence of neuropathic Gaucher disease
(types 2 and 3) varies across ethnic groups, but
appears to be higher among non-Caucasians.
September 20
The symptomatic spectrum of Gaucher disease is
broad, ranging from no outward symptoms to
severe disability.
September 21
Gaucher disease can cause anemia, fatigue, easy
bruising and bleeding, nosebleeds, osteoporosis,
bone pain and easily broken bones, and swollen
stomach due to enlarged liver and/or spleen.
Gaucher disease is a mutation of the gene, where
once established, is transmitted as a simple
dominant hereditary trait.
September 22
September 23
September 24
September 25
September 26
September 27
September 28
September 29
September 30
The carrier rate for the mutations which cause
Gaucher disease may be as high as 1 in 15
Jewish people of Eastern European ancestry, and
1 in 100 of the general population.
Gaucher disease is one of more than 6000 rare
diseases that affect less than 200,000 people in
the U.S.(Defined by the Orphan Drug Act)
The severity of Gaucher disease varies
considerably. While some may experience
symptoms from a young age, in others, it may
progress at a slower rate with symptoms
becoming apparent later in life.
Regardless of a patient’s age, Gaucher disease
is often progressive and can affect the function of
many organ systems, including the liver, spleen,
lungs, brain, metabolism, and bone marrow.
Prenatal testing for pregnancies at increased risk
for Gaucher disease is possible when two
disease-causing mutations in a family are known.
Though carriers do not have a diagnosis of
Gaucher disease, they can still pass it along to
their biological children. If 2 carriers of Gaucher
disease have children, there is a chance that their
children may have the disease.
Unlike many more severe recessive disorders,
most people with type 1 Gaucher disease can
have children.
Genetic counseling is available for those who
have a family history, or are found to be carriers,
of Gaucher disease.
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the age of two
Type 3 Gaucher disease can also
include CNS involvement but is much
milder and slowly progressive
compared to types 1 and 2
The prevalence of neuropathic
Gaucher disease (types 2 and 3)
varies across ethnic groups, but
appears to be higher among nonCaucasians.
The symptomatic spectrum of Gaucher
disease is broad,
ranging from no outward symptoms to
severe disability.
Gaucher disease can cause anemia,
fatigue, easy bruising/bleeding,
osteoporosis, and swollen stomach
due to enlarged liver and/or spleen.
Gaucher disease is a mutation of the
gene, where once established, is
transmitted as a simple dominant
hereditary trait.
The carrier rate for mutations which
cause Gaucher disease may be as
high as 1 in 15 Jewish people of
Eastern European ancestry.
Gaucher disease is one of more than
6000 rare diseases that affect less
than 200,000 people in the U.S.
While some experience Gaucher
disease symptoms from a young age,
others may experience symptoms later
in life.
Regardless of a patient’s age, Gaucher
disease is often progressive and can
affect the function of many organ
systems.
Prenatal testing for pregnancies at
increased risk for Gaucher disease is
possible when two disease-causing
mutations in a family are known.
If 2 carriers of Gaucher disease have
children, there is a chance that their
children may have the disease.
Unlike many more severe recessive
disorders, most people with type 1
Gaucher disease can have children.
Genetic counseling is available for
those who have a family history, or are
found to be carriers, of Gaucher
disease.
September 30
(second post)
Thank you for your support. We have raised a
total of XX for the NGF this month!
Thank you for your support. We have
raised a total of XX for the NGF this
month!
Blog Posts that Appeared on Facebook Page
#1 Past, Present and Future of Gaucher Disease
By Dr. Norman Barton, Senior Fellow and Disease Expert, Shire HGT
In celebration of National Gaucher Disease Awareness Month, I wish to contribute to a series of blog
posts in an effort to connect with the community and to increase awareness for this inherited metabolic
disease.
I have spent the vast majority of my professional life working with rare genetic disorders including
Gaucher disease. More than 20 years ago, I directed the landmark study at the NIH that lead to
availability of the first enzyme replacement therapy for the disorder and I am thrilled to see how far we’ve
come. Now, 20 years later, the outlook is especially bright with so many developments in Gaucher
disease treatment.
Although we have come a long way in the past few decades, there are still unmet needs and it is remains
essential to increase awareness and education about the disease. We need increased physician
awareness in order to diagnose patients accurately and patients need to be educated so they can
recognize the health concerns that may lead to a diagnosis and be their own advocates.
In the past, diagnosis was quite a painful process for patients. Examining bone marrow or other tissues
was the only effective way to diagnose Gaucher disease. Today, presence or absence of the disease can
be established from a single blood test. Genetic testing can even be done using a simple saliva sample.
Though Gaucher disease primarily affects the Ashkenazi Jewish community, it can affect individuals of
any ethnicity. This is why it is so important for everyone to be aware.
th
About 24 years ago, Congress designated October 19 as the start of “Gaucher Disease Awareness
Week" and requested that President Ronald Reagan issue a proclamation in observance of that week.
Today, Gaucher Disease Awareness Week has evolved into Gaucher Disease Awareness Month to help
spread the message as far as possible further demonstrating the progress we’ve made.
For those of us close to the Gaucher community, we all appreciate that a rare disease is not so rare when
it affects you or a loved one.
Please stay tuned for more blog posts throughout September!!
Genetics as a risk factor
By Dr. Gabriel Cohn, medical director, Shire HGT
From reading prior information provided on this site, you are probably aware that Gaucher disease is a
rare genetic disorder, but perhaps it will help to explain what exactly this means. Gaucher disease as an
autosomal recessive disorder, which means that a person with Gaucher disease has genetic changes
(mutations) in both copies of the gene related to this disorder.
We have two copies of most genes, one copy inherited from each parent. The parents of an individual
with Gaucher disease usually carry one copy of this gene with a mutation and one gene that is fully
functional. These parents are referred to as carriers and do not show any signs or symptoms of this
disease. If both parents are carriers and each parent passes down the gene with a mutation, their child
will have Gaucher disease.
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Patients often ask me how they can prevent passing Gaucher disease on to their children. My
recommendation for those who have a family history of Gaucher, or are found to be carriers of Gaucher
disease, is to meet with a clinical geneticist or genetic counselor and find out more about what is right for
you and your family through genetic counseling.
Genetic counseling can provide you and your family with not only valuable medical information, but also
support in adjusting to new knowledge and decision-making that is aligned with your personal beliefs and
ethics. This can be particularly helpful in family planning and decision-making, such as prenatal testing.
No one can make this decision for you, but a genetic counselor can give you the tools you need to be
informed.
For more information on genetic counseling, visit the National Society of Genetic Counselors (NSGC) at
www.nsgc.org.
Twitter Page
11
YouTube Initiative
Number of Views over 30 Day Period (September)
Screen Shot of Video (FULL CLIP INCLUDED ON DISC)
12
YouTube Search (third video in results)
13
Gaucher Awareness Month: Google Search
(PR efforts resulted in first four search items on Google)
14