Many of the thousands of rare diseases lack effective treatments. However, economic and regulatory incentives, as well as advances in our understanding of disease aetiology, have encouraged increased investment in the development of drugs for rare diseases — orphan drugs. This special collection from Nature Reviews Drug Discovery includes articles that discuss the impact of orphan drug legislation in the United States and Europe, and that review recent therapeutic progress for two groups of rare diseases: neuromuscular disorders and myeloproliferative neoplasias.




Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years

M. Miles Braun, Sheiren Farag-El-Massah, Kui Xu & Timothy R. Coté


Nature Reviews Drug Discovery 9, 519-522 (2010)

The development of drugs for rare diseases — often known as orphan drugs — is attracting increasing interest and investment, catalysed in part by incentives such as those provided by the 1983 US Orphan Drug Act. This article provides the first comprehensive analysis of 25 years of data on the designation and approval of orphan drugs by the US Food and Drug Administration, with the aim of supporting and encouraging future orphan drug development and approval.


European regulation on orphan medicinal products: 10 years of experience and future perspectives


Nature Reviews Drug Discovery 10, 341-349 (2011)

Regulation on orphan medicinal products was adopted in the European Union in 2000, with the aim of benefiting patients who suffer from serious, rare conditions for which there is currently no satisfactory treatment. This article highlights the outcomes of this regulation, such as the approval of more than 60 orphan drugs, reflects on the experience gained so far and discusses key issues for the next 10 years.



Janus kinase inhibitors for the treatment of myeloproliferative neoplasias and beyond

Alfonso Quintás-Cardama, Hagop Kantarjian, Jorge Cortes & Srdan Verstovsek


Nature Reviews Drug Discovery 10, 127-140 (2011)

Activating mutations in Janus kinase 2 (JAK2) are a common feature of a number of myeloproliferative neoplasms. JAKs are also involved in the pathogenesis of inflammatory and immune-mediated disorders, and several JAK inhibitors are now in clinical development. In this Review, Quintás-Cardama and colleagues discuss the current progress in this field.

Targeting RNA to treat neuromuscular disease

Francesco Muntoni & Matthew J. A. Wood


Nature Reviews Drug Discovery 10, 621-637 (2011)

The development of effective therapies for neuromuscular disorders is hampered by considerable challenges, including the abundance of skeletal muscle within the body and the multisystemic nature of many of these diseases. Here, Muntoni and Wood review recent advances in the development of novel therapies that target RNA, which are exemplified by three disorders: Duchenne muscular dystrophy, myotonic dystrophy and spinal muscular atrophy.