Q&A on 26 New EU Research Projects on Rare Diseases

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 scarceresources 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 alsoremarkable interestfor 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 keyobjective is to deliver, by 2020, 200 new therapies for rare diseases and the means todiagnose 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.

3) Apart from research, whatelse 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).

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 / Coordinator / Contact person / e-mail address / EU contribution for the project
ADVANCE_HTA
Advancing and strengthening the methodological tools and practices relating to the application and implementation of Health Technology Assessment (HTA) / LONDON SCHOOL OF ECONOMICS AND POLITICAL SCIENCE, UK / Panos Kanavos / / €2 999 805
BALANCE
Development of a bioartificial liver therapy in acute liver failure / ACADEMISCH MEDISCH CENTRUM BIJ DE UNIVERSITEIT VAN AMSTERDAM, The Netherlands / Robert A.F.M. Chamuleau / / €5 996 180
BESTCILIA
Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia / WESTFAELISCHE WILHELMS-UNIVERSITAET MUENSTER, Germany / Heymut Omran / / €2 993 675
chILD-EU
Orphans Unite: chILD better together –
European Management Platform for Childhood Interstitial Lung Diseases / LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN, Germany / Matthias Griese / / €3 000 000
DeSScipher
To decipher the optimal management of systemic sclerosis / JUSTUS-LIEBIG-UNIVERSITAET GIESSEN, Germany / Ulf Müller-Ladner / / €2 999 835
DevelopAKUre
Clinical Development of Nitisinone for Alkaptonuria / ROYAL LIVERPOOL AND BROADGREENS UNIVERSITY HOSPITALS TRUST , UK / Lakshminarayan Ranganath / / €5 999 999
DRUGSFORD
Preclinical development of drugs and drug delivery technology for the treatment of inherited photoreceptor degeneration / EBERHARD KARLS UNIVERSITAET TUEBINGEN, Germany / Francois Paquet-Durand / / €4 971 428
DSD-Life
Clinical European study on the outcome of surgical and hormonal therapy and psychological intervention in disorders of sex development (DSD) / CHARITE - UNIVERSITAETSMEDIZIN BERLIN, Germany / Birgit Köhler / / €2 999 956
EURenOmics
European Consortium for High-Throughput Research in Rare Kidney Diseases / UNIVERSITAETSKLINIKUM HEIDELBERG, Germany / Franz Schaefer / / €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 / CENTRO DE INVESTIGACIONES ENERGETICAS -CIEMAT, Spain / Juan A. Bueren / / €5 380 170
FIGHT-HLH
First Targeted Therapy to FIGHT Hemophagocytic Lymphohistiocytosis (HLH): A novel approach to HLH / NOVIMMUNE SA, Switzerland / Christina de Min / / €5 946 262
GAPVAC
Glioma actively personalized vaccine consortium / IMMATICS BIOTECHNOLOGIES GMBH, Germany / Sabrina Kuttruff / / €5 970 450
IMPROvED
IMproved Pregnancy Outcomes by Early Detection;
personalized medicine for pregnant women: novel metabolomic and proteomic biomarkers
to detect pre-eclampsia and improve outcome. / UNIVERSITY COLLEGE CORK, Ireland / Louise Kenny / / €5 995 390
MeuSIX
Clinical trial of gene therapy for MPS VI - a severe lysosomal storage disorder / FONDAZIONE TELETHON, Italy / Alberto Auricchio / / €5 995 041
Net4CGD
Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) / ASSOCIATION GENETHON, France / Anne Galy / / €5 999615
Neuromics
Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases / EBERHARD KARLS UNIVERSITAET TUEBINGEN, Germany / Olaf RIESS / / €12 000 000
OPTIMISTIC
Observational Prolonged Trial In Myotonic dystrophy type 1 to Improve QoL-Standards, a Target Identification Collaboration / STICHTING KATHOLIEKE UNIVERSITEIT, The Netherlands / Baziel Van Engelen / / €3 000 000
PREVENTROP
New approach to treatment of the blinding disease Retinopathy of Prematurity (ROP) / GOETEBORGS UNIVERSITET, Sweden / Ann Hellström / / €5 990 236
PROFNAIT
Development of a prophylactic treatment for the prevention of fetal/neonatal alloimmune thrombocytopenia (FNAIT / PROPHYLIX PHARMA AS , Norway / Jens Kjeldsen-Kragh / / €5 986 000
RARE-Bestpractices
Platform for sharing best practices for management of rare diseases / ISTITUTO SUPERIORE DI SANITA, Italy / Domenica Taruscio / / €2 000 000
RD-Connect
RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research / UNIVERSITY OF NEWCASTLE UPON TYNE, UK / Hanns Lochmueller / / €11 997 111
SKIP-NMD
A phase I/IIa clinical trial in Duchenne muscular dystrophy using
systemically delivered morpholino antisense oligomer to skip exon 53 / UNIVERSITY COLLEGE LONDON, UK / Francesco Muntoni / / €5 512 424
STRONG
European Consortium for the Study of a Topical Treatment of Neovascular Glaucoma / JOHANNES GUTENBERG-UNIVERSITAET MAINZ, Germany / Norbert Pfeiffer / / €5 745 334
SUPPORT-IRDiRC
Support for international rare disease research to serve the IRDiRC objectives / INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM), France / Segolene Ayme / / €2 000 000
THALAMOSS
THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassemia / UNIVERSITA DEGLI STUDI DI FERRARA , Italy / Roberto Gambari / / €5 020 000
Traumakine
Interferon-beta treatment of acute respiratory distress syndrome (ARDS) / OY FARON PHARMACEUTICALS LTD, Finland / Markku Jalkanen / / €5 997 278

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