As originally reported in Porphyria News, rare diseases have historically been neglected by traditional medicine; their obscure and often genetic nature made them lack priority, stuck behind a long list of more common diseases. The new age of information and technology has finally made some progress- while the vast majority of rare disease patients still have no approved treatment options, finally some rare disease patients are getting real, effective, lasting treatments. This is very exciting for rare disease patients and family, many of the effected being children. Children make up around half of all rare disease patients and often for them, treatments are crucial for the debilitating nature of many of those diseases. A new study on pediatric drug approvals has found the avenue many young rare disease patients are finally receiving options: repurposed drugs.

Orphan Drugs Designations

The reality of creating novel pharmaceuticals is intensive and expensive, so to motivate pharmaceutical creators, federal policies have been created to promote investment in rare disease treatment options. Instead, federal incentives have motivated companies to turn to how existing drugs could be used in innovative ways. Much of the time consuming process of drug creation can be skipped over by investing in tinkering with how existing drugs may have untapped potential. Orphan drugs, or pharmaceuticals created for rare disease’s small patient pools, are very hard to find funding for because there are not many patients to buy into the high-cost product. In order to encourage pharmaceutical companies to invest in them, governments often provide extra incentives such as market exclusivity for products for seven years, tax exemptions or credits, and grants to speed up trials.

New Study’s Findings

A new study found that between 2010 and 2018, rare diseases had 402 orphan drugs targeting pediatric illnesses approved by the FDA. The majority of these were for already existing therapies. About a third of these were treatments for children.  While they noted that this was exciting to have so many more options, they note that with many of the repurposed drugs, the number of uses and expansion was relatively minor, not actually opening novel new drugs to untapped patient pools. Additionally, of the 97 treatments that went before the FDA seeking approval for their ‘breakthrough therapy designation’, a special designation to accelerate approval processes for therapies for serious diseases. Of these, only about 20% received it. As reported in Porphyria News, Lauren Kimmel, the study’s first author, explained