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EU-US plans for joint funding of rare diseases research unveiled to industry

A new transatlantic alliance showcased its ambition to develop diagnostics for 8,000 rare diseases and double the number of registered Orphan drugs for rare conditions by 2020, at the Biotechnology Industry Organization (BIO) meeting in Washington

The European Commission's Director of Public Health Andrzej Rys said rare diseases will continue to be a priority in the next research programme, Horizon 2020 Photo: Charité, Berlin
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The European Commission and the US National Institutes of Health (NIH) is putting together a jointly-funded programme of research to capitalise on advances in genomics and speed up the development of diagnostics and treatments for rare diseases.

The International Rare Disease Research Consortium (IRDiRC) set up by the Commission and the NIH to drive the plan, will hold a meeting in Montreal, Canada in October to finalise its research agenda, following two earlier meetings to set objectives and draw up a strategy. The consortium’s plans were revealed to industry last month at the 15,000-strong BIO convention in Washington DC, when companies were promised the Montreal meeting will focus on the perspectives and needs of industry. Regulators will also be invited to discuss their concerns, with the eventual objective of merging the processes for registering treatments for rare diseases.

IRDiRC is modelled on similar projects, such as the International Cancer Genome Consortium and the International Knockout Mouse Consortium, in which national public funding agencies have set out research roadmaps and funded joint programmes to reach specific objectives as quickly as possible, without any duplication of effort.  Each agency issues calls according to its own rules, to meet the shared objectives.

The initial work to shape IRDiRC was begun by the European Commission and the NIH last October, with the idea of pulling in other national funding agencies, which will each pay $10 million to be part of the consortium. Spain was the first to formally commit to joining IRDiRC.

“We hope that when it starts rolling other countries come on board to create diagnostics for rare diseases and speed up the development and approval of treatments for rare diseases,” Indridi Benediktsson of the European Commission’s Health Directorate, told delegates at BIO.

Unmet medical need

Rare diseases – which the European Medicines Agency defines as diseases that affect one person in 2,000 or fewer – represent a huge unmet medical need, with around 30 million patients in Europe, noted Andrzej Rys, Director of Public Health at the EU’s Health Directorate. “Small patient populations are a challenge for developing new diagnostics and therapeutic tools,” Rys said, outlining previous measures the Commission has taken to pool expertise at a European level.

Rare disease research is a priority of the 2008 -2013 Framework Programme 7, with €237 million invested from 2007 – 2010. The Commission has promised a further €100 million for rare diseases in the next FP7 Health call, in 2012. Rys said rare diseases will continue to be a priority in the next research programme, Horizon 2020, which runs from 2014 – 2020.

The IRDiRC will network the world’s top scientists around the shared R&D programme that is due to be set out at the Montreal meeting. This “large and coordinated effort” will aim to understand the pathophysiology of rare diseases, conduct genomic analyses, develop disease models for use in drug discovery and development, prospect for biomarkers of disease and response to treatment, and support patient registries and related biobanks, Rys said.

Rare diseases are a “global issue” said Stephen Groft, Director of the Office of Rare Diseases at NIH. “The needs are the same regardless of country”, and call for “tremendous, coordinated effort,” he told the meeting.

Industry cooperation required

The IRDiRC will certainly need the cooperation of industry in its objective of doubling the number of registered Orphan drugs - from 200 currently - to 400 by 2020. Given the 10 – 12 year timescale for developing a new drug, this looks hopeless unrealistic, but Groft said the emphasis will be on re-purposing products that are on the market already for treating other diseases.

The objective of developing diagnostics for most of the 8,000 known rare diseases is another “tremendous task” though Groft said faster genome sequencing is making it far easier to achieve.

At present it can often take more than five years to get a diagnosis of a rare disease, and while it may seem somewhat pointless having a diagnostic for a disease for which there is no treatment, Groft believes it will be valuable. “For many just having a diagnosis is good – they can connect with other patients and learn how to live with the disease even if no treatment is readily available.”

In addition, IRDiRC will build a critical mass of investigators and clinicians, improving care and increasing well-being. The consortium has already attracted industry, academics, governments, regulators and patient advocacy groups, and more will join once the organisation formally gets of the ground. There is a lot of work to share information widely, identify existing R&D programmes, research consortia, networks and biobanks and establish and link the global rare diseases community, said Groft.

Rare diseases as role models for personalised medicines

EU and US Orphan drug legislation offering incentives to develop drugs for rare diseases has increased industry investment in the field, and pharmaceutical companies have become more interested in this area. But said Groft, “There are so many [rare] diseases [we] can’t assume industry will be interested in all of [them].”

Samantha Parker, Academic Manager at Orphan Drug Europe, an Italian rare diseases drug company, told delegates that collaboration is essential. Her company has developed one drug for which there are currently 24 patients in the whole of Europe, and Parker’s observation is that national centres of excellence in Europe are working together more and more. Now is the time to extend this cooperation across the Atlantic, she said. “You have to combine efforts, to find out what is already available and work from this. It requires an open collaboration approach with team working, but clear governance.”

The pharma has shown increasing interest in rare diseases of late, with GlaxoSmithKline and Pfizer, for example, setting up dedicated research units. This is motivated by the notion that rare diseases can simultaneously be pathfinders for more common diseases and at the same time provide a useful role model for the development of personalised medicine.

The industry’s intent is perhaps best exemplified by the acquisition of the US rare diseases specialist Genzyme by the French pharma company Sanofi earlier this year. Carlo Incerti, Senior Vice President of Genzyme told the conference that the discussion of rare diseases as prototypes of therapeutics for more common diseases and for personalised medicine is the biggest trend in larger pharma companies at present.

The objective of developing 200 new drugs by 2020 calls for a big effort in sharing, with an “open innovation space” where data can be freely exchanged, Incerti said. There need to be model agreements for testing and re-purposing of existing drug compounds for treating rare diseases. And cautioned Incerti, the “biggest challenge” will be intellectual property rights.

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Related subjects: Biotechnology, European Commission, European Union, USA, personalised healthcare