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Rare Diseases Get $187M from European Commission

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By Nuala Moran
Staff Writer

LONDON – The European Commission (EC) finally put some financial firepower behind its pledge to find treatments for 200 rare diseases by 2020, announcing €144 million (US$187 million) of new funding for 26 separate projects.

Those projects will bring together more than 300 participants from 29 countries across Europe and the U.S., including academics, biotechs and patients' groups.

A spectrum of rare diseases, ranging from cardiovascular to metabolic and immunological disorders will be covered.

In addition to looking for new treatments, there will be research into disease origins and mechanisms, attempts to speed up and improve the accuracy of diagnoses, and work to improve the clinical management of rare diseases.

The new funding will support the efforts of the International Rare Diseases Research Consortium (IRDiRC), a body set up by the EC and the National Institutes of Health (NIH) in April 2011. In addition to delivering 200 new therapies, it aims to provide the means to diagnose the majority of the 6,000 rare diseases that are recognized currently.

Details of three of the projects were unveiled at an IRDiRC meeting in Spain in January, but the EC rolled those into a grand announcement of the 23 other projects made last week on Europe's Rare Diseases Day, as researchers, advocates and patients' groups met up in Dublin, Ireland.

Speaking from the conference, Alastair Kent, director of Genetic Alliance UK, told BioWorld Today: "This is good news. Two hundred new therapies by 2020 is an ambitious goal, and will involve investing significant sums of money. This is the first funding decision made in support of IRDiRC, and it's good the commission has finally managed to start committing resources."

Kent sits on IRDiRC's interdisciplinary steering committee, which aims to bring focus to research in rare diseases that is funded by national R&D funding agencies in Europe and also by the NIH. He said he believes it is an important initiative to ensure work is coordinated and research funded by one agency is not duplicated by another.

Now, however, there needs to be even greater coordination, drawing in pharma companies with an interest in rare diseases, to ensure potential drug candidates meet their requirements, and involving regulators to win acceptance of clinical trials with small numbers of patients. "We're going to have to look right across the spectrum at all processes and make sure all the ducks are in a line to meet the 2020 targets," Kent said.

While regulatory bodies are moving in the right direction in terms of accepting slim data files, Europe's increasingly influential health technology assessment bodies could throw up barriers to market. "They are struggling to move away from traditional measures of clinical added value, which are not appropriate when you are looking at rare diseases," Kent noted.

Beyond the new funding, this year will see another significant step forward, with all governments in Europe committed to put in place a national strategy for rare diseases.

The 26 projects announced on Rare Diseases Day range from clinical trials in specific disorders, to international efforts to marshal and interrogate relevant genomic data.

The trials include a gene therapy for X-linked chronic granulomatous disease, a trial of a gene therapy for MPS VI, a severe lysosomal storage disorder, and of the first targeted therapy for hemophagocytic lymphohistiocytosis.

In the genomics of rare diseases, EURenOmics, will aim to identify novel genetic and epigenetic causes and modifiers of rare renal diseases and their molecular pathways; develop rapid diagnostic testing; discover and validate biomarkers of disease activity, prognosis and treatment responses; and develop in vitro and in vivo disease models.

Meanwhile, a second project, Neuromics, will address rare neurodegenerative and neuromuscular disorders using next-generation whole-exome sequencing to increase the number of known gene loci, increase patient cohorts through large scale genotyping and gene panel enrichment and develop biomarkers that can be used to diagnose those diseases before symptoms occur.

A third genomics project, RD-Connect, will develop a global infrastructure for sharing the research outputs of those and other rare disease projects, providing a single centralized repository for rare diseases -omics data, and phenotypic and biomaterial information.