Rare diseases—only 5% can be treated

Funding for rare diseases is booming on both sides of the Atlantic. The European Commission (EC) has allocated €144 ($188) million among 26 new research projects, under the global banner of the International Rare Diseases Research Consortium (IRDiRC). In the US, members of the Washington, DC–based Pharmaceutical Research and Manufacturers of America (PhRMA) invested $49.5 billion in rare disease R&D in 2011 alone, whereas the National Institutes of Health bestowed $3.5 billion. Of approximately 7,000 rare diseases, only 5% currently have treatments. Support for the rare disease field in the EU has been steadily increasing for more than two decades. The latest initiative aims to diagnose all rare diseases, and create 200 new therapies by 2020 as well as provide support for basic research and improved healthcare management. According to Hanns Lochmüller, the chair of IRDiRC's interdisciplinary scientific committee, international coordination and data sharing is necessary because no single institute has enough patients to do effective research alone. Moreover, he says, the recent explosion in whole-exome and whole-genome sequencing requires better harmonization to cope with the sheer amount of data. In the US, industry interest in rare diseases is also growing. A recent report by PhRMA (http://phrma.org/sites/default/files/2435/2013innovationinthebiopharmaceuticalpipeline-analysisgroupfinal.pdf/) stated that a third of US Food and Drug Administration approvals in 2007–2011 were for orphan indications. Genia Long of the Analysis Group, Boston, one of the co-authors of the report, said that for biologics, this figure is even higher at two-thirds. Although the Orphan Drug Act of 1984 provides strong financial incentives, she noted that this did not fully explain the more recent surge. Industry interest in rare diseases may be driven by improvements in clinical trial design, and better understanding of the molecular and genetic basis of disease. Oncology in particular, which makes up over a third of orphan diseases, has benefitted from intense basic research. Industry has also become more interested in drugs for rare diseases since it became obvious that they could command high prices. Also, although each individual disease has relatively few sufferers, the worldwide rare disease patient population represents a large market. “By all accounts the Orphan Drug Act has been highly successful in providing incentives for increased development investment in rare and orphan diseases, but there is still a high level of unmet need,” said Long. “Most rare diseases still have no effective therapy.”