EUROPEAN COMMISSION
MEMO
Brussels, 28 February 2013
Q&A on 26 new EU research projects on rare diseases
1) Why is research at European level important?
There is a huge need for European cooperation in rare diseases research. Individual
Member States are not able to gather enough knowledge and expertise in a specific
disease due to scarce resources and the relatively low number of patients in each Member
State. As a consequence, it is also difficult for doctors to diagnose and identify the best
treatment for rare diseases. Only through exchange of knowledge and pooling resources
together, Europe can get closer to solutions.
Research on rare diseases presents also remarkable interest for other health sectors: rare
diseases can serve as models to better understand more common diseases. And
overcoming the many hurdles to investigating rare diseases can help improve health
research in other areas e.g. by developing models for personalised medicine approaches.
2) Why has the EU led the creation of the International Rare
Diseases Research Consortium (IRDiRC)?
Rare diseases are a challenge too big for any country or world region to master alone. This
is why the European Commission, together with national and international partners,
initiated IRDiRC. The ability to share resources and expertise with other organisations
from around the world will multiply our chances of finding new ways to diagnose and fight
rare diseases.
IRDiRC's key objective is to deliver, by 2020, 200 new therapies for rare diseases and the
means to diagnose most of them. The European Commission and the U.S. National
Institutes of Health launched this initiative in spring 2011. It brings together organisations
ready to invest, over a 5-year period, more than €7.6 million into research which
contributes to its objectives.
The European Union will invest close to €500 million into research relevant to this area
during the period 2007-2013.
Just under 30 organisations from Europe, North America and Australia are already part of
IRDiRC and more organisations from across the globe are expected to join the initiative.
The consortium will also rely on the collaboration with researchers, patients groups,
industry associations and regulatory bodies.
MEMO/13/148
3) Apart from research, what else is the EU doing to combat rare
diseases?
The European Commission helps bring together the scarce knowledge and resources that
are currently fragmented across individual EU countries, to maximize synergies and
results.
The 2008 Commission Communication on rare diseases - 'Europe's challenges', put
forward a co-operation system between the Commission, Member States and various
stakeholders. This paved the way for a Council Recommendation in 2009 on action in the
field of rare diseases, a number of Joint Actions under the EU Health Programme, e.g. the
'Orphanet Europe' joint action which helps patients and professionals to collect and share
expertise and information across borders, and the creation in 2010 of the EU Committee of
Experts on Rare Diseases.
Specific measures of the EU policy on rare diseases include improving recognition and
visibility of rare diseases, ensuring that they are adequately coded and traceable in all
health information systems, supporting rare diseases registries and providing a European
Platform for rare diseases registration, strengthening EU-level cooperation and
coordination and supporting national plans for rare diseases.
In the Council Recommendation, Member States are called to adopt national plans or
strategies for rare diseases by the end of 2013. The Commission has supported the
development of technical assistance and training tools to help Member States create these
national plans, i.e. the EUROPLAN project and the 2012 Joint Action. It is up to Member
States to shape their own national rare diseases plans adapted to their reality, but
following common guidelines.
4) What is the kind of research that the European Research Council
is funding to fight rare diseases?
Molecular and Genetic Study of the human infections by Capnocytophaga canimorsus –
“CAPCAN” – Funding: EUR 1.47 million
Capnocytophaga canimorsus are Gram-negative bacteria from the normal oral flora of
dogs, which can cause rare but severe infections in humans who have been bitten or
licked, resulting in fulminant septicaemia with peripheral gangrene. With his ERC grant,
Prof Guy R. Cornelis sets out to study the complex interactions between the bacteria and
human cells, and to determine whether all bacterial strains are equally dangerous in this
rare human infectious disease. By developing virulence models, the project should offer
new insights into this recently discovered pathogen and information on how to prevent
infection in the future.
Genome Stability Mechanisms in Aging – “GENSTAGE” – Funding EUR 1.44 million
This research project aims at understanding the mechanisms underlying aging. It focuses
on the discovery of novel genes functioning in genome stability and longevity regulation
that might be instrumental for development of preventive therapeutic strategies to treat
rare genetic progeroid disorders (i.e.; rare disorders that appear early in childhood and
impact children’s health with for instance, growth retardation and neurodegenerative
problems such as deafness, vision deficits and motor difficulties).
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Molecular by-pass therapy for mitochondrial dysfunction - “Mito-by-pass” – Funding EUR
2.43 million
The project deals with malfunction of the mitochondria, the cell’s "power-plants", which
underlies a diverse range of human pathologies; including rare neuromuscular syndromes,
many cases of common multifactorial diseases, neurodegenerative conditions such as
Parkinson’s disease, and devastating metabolic disorders of infancy. The research team of
Jacob Howard Trevor develops an innovative strategy for genetic therapy of this vast
range of pathologies.
5) Overview of the 26 new research projects
Project acronym & full
name
ADVANCE_HTA
Advancing and
strengthening the
methodological tools and
practices relating to the
application and
implementation of Health
Technology Assessment
(HTA)
BALANCE
Development of a
bioartificial liver therapy in
acute liver failure
BESTCILIA
Better Experimental
Screening and Treatment
for Primary Ciliary
Dyskinesia
chILD-EU
Orphans Unite: chILD
better together –
European Management
Platform for Childhood
Interstitial Lung Diseases
DeSScipher
To decipher the optimal
management of systemic
sclerosis
DevelopAKUre
Clinical Development of
Nitisinone for Alkaptonuria
Coordinator
Contact
person
Panos
Kanavos
e-mail
address
p.g.kanavos
@lse.ac.uk
EU contribution
for the project
€2 999 805
ACADEMISCH
MEDISCH
CENTRUM BIJ
DE
UNIVERSITEIT
VAN
AMSTERDAM,
The
Netherlands
WESTFAELISCH
E WILHELMSUNIVERSITAET
MUENSTER,
Germany
LUDWIGMAXIMILIANSUNIVERSITAET
MUENCHEN,
Germany
Robert
A.F.M.
Chamuleau
r.a.chamule
au@amc.uv
a.nl
€5 996 180
Heymut
Omran
heymut.omr
an@ukmuen
ster.de
€2 993 675
Matthias
Griese
matthias.gri
ese@med.u
nimuenchen.d
e
€3 000 000
JUSTUSLIEBIGUNIVERSITAET
GIESSEN,
Germany
ROYAL
LIVERPOOL
AND
BROADGREENS
Ulf
MüllerLadner
u.muellerladner@kerc
khoffklinik.de
€2 999 835
Lakshminara
yan
Ranganath
lrang@liverp
ool.ac.uk
€5 999 999
LONDON
SCHOOL OF
ECONOMICS
AND POLITICAL
SCIENCE, UK
3
Project acronym & full
name
Coordinator
Contact
person
e-mail
address
EU contribution
for the project
UNIVERSITY
HOSPITALS
TRUST , UK
DRUGSFORD
Preclinical development of
drugs and drug delivery
technology for the
treatment of inherited
photoreceptor
degeneration
DSD-Life
Clinical European study on
the outcome of surgical
and hormonal therapy and
psychological intervention
in disorders of sex
development (DSD)
EURenOmics
European Consortium for
High-Throughput Research
in Rare Kidney Diseases
EBERHARD
KARLS
UNIVERSITAET
TUEBINGEN,
Germany
Francois
PaquetDurand
francois.paq
uetdurand@klin
ikum.unituebingen.d
e
€4 971 428
CHARITE UNIVERSITAET
SMEDIZIN
BERLIN,
Germany
Birgit Köhler
Birgit.Koehle
r@charite.de
€2 999 956
UNIVERSITAET
SKLINIKUM
HEIDELBERG,
Germany
Franz
Schaefer
franz.schaef
er@med.uni
heidelberg.d
e
€11 994 567
EUROFANCOLEN
Phase I/II Gene Therapy
Trial of Fanconi anemia
patients with a new
Orphan Drug consisting of
a lentiviral vector carrying
the FANCA gene: A
Coordinated International
Action
FIGHT-HLH
First Targeted Therapy to
FIGHT Hemophagocytic
Lymphohistiocytosis (HLH):
A novel approach to HLH
GAPVAC
Glioma actively
personalized vaccine
consortium
IMPROvED
IMproved Pregnancy
Outcomes by Early
Detection;
personalized medicine for
pregnant women: novel
metabolomic and
proteomic biomarkers
to detect pre-eclampsia
CENTRO DE
INVESTIGACIO
NES
ENERGETICAS
-CIEMAT,
Spain
Juan
Bueren
juan.bueren
@ciemat.es
€5 380 170
NOVIMMUNE
SA,
Switzerland
Christina de
Min
cdemin@nov
immune.co
m
€5 946 262
IMMATICS
BIOTECHNOLO
GIES GMBH,
Germany
UNIVERSITY
COLLEGE
CORK, Ireland
Sabrina
Kuttruff
kuttruff@im
matics.com
€5 970 450
Louise
Kenny
l.kenny@ucc
.ie
€5 995 390
4
A.
Project acronym & full
name
and improve outcome.
MeuSIX
Clinical trial of gene
therapy for MPS VI - a
severe lysosomal storage
disorder
Net4CGD
Gene Therapy for X-linked
Chronic Granulomatous
Disease (CGD)
Neuromics
Integrated European –
omics research project for
diagnosis and therapy in
rare neuromuscular and
neurodegenerative
diseases
OPTIMISTIC
Observational Prolonged
Trial In Myotonic dystrophy
type 1 to Improve QoLStandards, a Target
Identification Collaboration
PREVENTROP
New approach to treatment
of the blinding disease
Retinopathy of Prematurity
(ROP)
PROFNAIT
Development of a
prophylactic treatment for
the prevention of
fetal/neonatal alloimmune
thrombocytopenia (FNAIT
RARE-Bestpractices
Platform for sharing best
practices for management
of rare diseases
RD-Connect
RD-CONNECT: An
integrated platform
connecting registries,
biobanks and clinical
bioinformatics for rare
disease research
Coordinator
Contact
person
e-mail
address
EU contribution
for the project
FONDAZIONE
TELETHON,
Italy
Alberto
Auricchio
auricchio@ti
gem.it
€5 995 041
ASSOCIATION
GENETHON,
France
Anne Galy
galy@genet
hon.fr
€5 999 615
EBERHARD
KARLS
UNIVERSITAET
TUEBINGEN,
Germany
Olaf RIESS
olaf.riess@
med.unituebingen.d
e
€12 000 000
STICHTING
KATHOLIEKE
UNIVERSITEIT,
The
Netherlands
Baziel
Van
Engelen
b.vanengele
n@neuro.u
mcn.nl
€3 000 000
GOETEBORGS
UNIVERSITET,
Sweden
Ann
Hellström
ann.hellstro
m@medfak.
gu.se
€5 990 236
PROPHYLIX
PHARMA AS ,
Norway
Jens
KjeldsenKragh
jkk@prophyl
ixpharma.co
m
€5 986 000
ISTITUTO
SUPERIORE DI
SANITA, Italy
Domenica
Taruscio
domenica.ta
ruscio@iss.it
€2 000 000
UNIVERSITY
OF NEWCASTLE
UPON TYNE,
UK
Hanns
Lochmueller
hanns.Loch
muller@ncl.
ac.uk
€11 997 111
5
Project acronym & full
name
SKIP-NMD
A phase I/IIa clinical trial
in Duchenne muscular
dystrophy using
systemically delivered
morpholino antisense
oligomer to skip exon 53
STRONG
European Consortium for
the Study of a Topical
Treatment of Neovascular
Glaucoma
SUPPORT-IRDiRC
Support for international
rare disease research to
serve the IRDiRC
objectives
THALAMOSS
THALAssaemia MOdular
Stratification System for
personalized therapy of
beta-thalassemia
Traumakine
Interferon-beta treatment
of acute respiratory
distress syndrome (ARDS)
Coordinator
Contact
person
Francesco
Muntoni
e-mail
address
f.muntoni@
ucl.ac.uk
EU contribution
for the project
€5 512 424
JOHANNES
GUTENBERGUNIVERSITAET
MAINZ,
Germany
INSTITUT
NATIONAL DE
LA SANTE ET
DE LA
RECHERCHE
MEDICALE
(INSERM),
France
UNIVERSITA
DEGLI STUDI
DI FERRARA ,
Italy
Norbert
Pfeiffer
norbert.pfeif
fer@unimedi
zin-mainz.de
€5 745 334
Segolene
Ayme
segolene.ay
me@inserm.
fr
€2 000 000
Roberto
Gambari
gam@unife.i
t
€5 020 000
OY FARON
PHARMACEUTI
CALS LTD,
Finland
Markku
Jalkanen
markku.jalk
anen@faron
pharmaceuti
cals.com
€5 997 278
UNIVERSITY
COLLEGE
LONDON, UK
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