Consortium aims for hundreds of new therapies by 2020.
Prader–Willi syndrome. Fabry renal disease. Spinocerebellar ataxia. Few people have heard of these and the other 'rare diseases', some of which affect only hundreds of patients worldwide. Drug companies searching for the next blockbuster pay them little attention. But the diseases are usually incurable — and there are thousands of them.
This week, the US National Institutes of Health (NIH) and the European Commission launch a joint assault on these conditions, whose small numbers of patients make it difficult to test new treatments and develop diagnostic methods. The International Rare Disease Research Consortium being formed under the auspices of the two bodies has the ambitious goal of developing a diagnostic tool for every known rare disease by 2020, along with new therapies to treat 200 of them. "The number of individuals with a particular rare disease is so small that we need to be able to pool information from patients in as many countries as possible," says Ruxandra Draghia-Akli, the commission's director of health research.
“We need to be able to pool information from patients in as many countries as possible. , ”
At the launch meeting in Bethesda, Maryland, on 6–8 April, prospective partners will map out research strategies to identify diagnostic biomarkers, design clinical trials and coordinate genome sequencing in these diseases. Nearly all the rare diseases, of which there are an estimated 6,000–8,000, are the result of small genetic changes.
The meeting will also discuss the governance of the project, which is most likely to be modelled on the pioneering Human Genome Project. As such, the consortium is open to research agencies and organizations from all over the world. Representatives from countries including Canada, Japan and some individual European nations are all attending the meeting, and may join the consortium. Those wishing to participate will have to pledge a minimum financial contribution, which has not yet been agreed, and share all relevant data. Indeed, the project will have to overcome numerous obstacles to information sharing, such as the fact that physicians in different countries often use entirely different words to describe the same disease.
Draghia-Akli points out that the project could yield major benefits for the emerging field of personalized medicine — another political priority for the NIH and the commission — which also faces the challenge of small populations of patients.
Regulatory agencies such as the US Food and Drug Administration and the European Medicines Agency rely on large, randomized and controlled clinical trials when deciding whether to approve new medicines, and one of the aims of the consortium will be to develop alternative clinical-trial methods for diseases that affect few people.
These methods are becoming ever more important now that genome analysis is helping to break down common diseases into ever smaller subclasses. "Soon there will be no disease called breast cancer," says Draghia-Akli. Instead, the catch-all term will be replaced by "a large number of rare diseases, each of which causes malignant growth in breast tissue and requires individual treatment", she says.
The commission will launch a €100-million (US$140-million) call for research proposals in July, which will support the consortium's scientific goals by focusing heavily on developing appropriate clinical trials.
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Health and Quality of Life Outcomes (2020)
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force
Orphanet Journal of Rare Diseases (2019)
European Journal of Human Genetics (2017)
Journal of Inherited Metabolic Disease (2015)