Rare Disease Day

CCSA’s Marie Ann Leyko attended Rare Disease Day at NIH in February. Her summary of the conference is below!

Conference Summary

The daylong meeting focused on the “Patients Voice,” bringing patient advocacy groups as well as researchers together. This event was established in 2010 to promotion awareness among policy makers, researchers, and the public about rare diseases and the impact that they have on patients and their families.

A rare disease is characterized as a disease that has a prevalence in <200,000 people. There are approximately 7,000 known rare diseases affecting 25 to 30 million Americans and nearly 400 million worldwide with nearly 50% of all rare diseases diagnosed in children. Since the inception of FDA’s Orphan Products Grants Program, established in the 1980’s, over $350 million has been provided to fund 570 studies and has supported the marketing of over 55 new drugs for specific rare diseases. However, considering the huge number of rare diseases and the time it took to approve just 55 drugs, it would take nearly two millenniums to find therapies for all of the rare diseases identified so far. Consequently, addressing rare diseases will require global cooperation in order to design clinical studies for finding effective treatments.

News & Tidbits

Given these sad statistics, Francis Collins, Director of the NIH, spoke about the need for finding innovative ways to speed drug development for rare diseases. Repurposing drugs currently on the market as well as the use of genomics in drug discovery were two suggested approaches. Dr. Collins used Lymphangioleiomyomatosis, a generally fatal progressive lung disease, which effects 3 to 5 women of child bearing age per million, as an example for utilizing this approach.

Commonly referred to as LAM, Lymphangioleiomyomatosis was characterized as having an overly active mTOR pathway, an intracellular signaling pathway important in regulating the cell cycle. Clinical trials are ongoing now to see if a drug called Sirolimus, also known as Rapamycin, could be used in treatment of LAM as it is currently used to prevent organ rejection and may help with LAM-depressed mTOR activity. This is just one example of finding a previously approved drug that genomically targets the same biochemical pathway as a rare disease.

Check out more information on the website, and here is this video cast of the conference.

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