Repurposing generics for rare diseases

Drug development is a business, and those who synthesize new compounds often do so for large populations to maximize payoff. Unfortunately, this means that very rare diseases are often not the focus of major pharmaceutical company drug development. However, utilizing drugs that have been on the market for decades can help rare-disease researchers overcome this economic barrier and create new cures.

Rapamycin was just such a drug: originally developed as a transplant anti-rejection drug, it is now available generically. Through some fairly straightforward trials, it was found to be an effective treatment for the pediatric blood disease Autoimmune Lymphoproliferative Syndrome (ALPS) due to its immunosuppressant properties (1). This rare condition causes anemia and increased risk of infection. ALPS patients routinely spent 5-10 days in the hospital every month during childhood, and many were not living beyond their teens. Rapamycin helps their bodies function normally: children from a study at the Children’s Hospital of Philadelphia have been on this treatment since 2006 and are thriving. The average annual cost of treatment for an ALPS patient on Rapamycin has gone from $100K per year to under $5K per year (2).

1. David T. Teachey, et.al.Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome. J Haematol. 2009 Apr; 145(1): 101.
2. “A Genuine Cure for a Deadly Children’s Disease.” Cures Within Reach. Web. 8 August 2008. [http://www.cureswithinreach.org/research/search-complete-research/success-stories/19-a-genuine-cure-for-a-deadly-children-s-disease”>Link here]