As the Chief Executive Officer of the National Ataxia Foundation (NAF), I am writing this petition to urge the U.S. Food and Drug Administration (FDA) to give due consideration and emphasis on accelerating treatment options for rare diseases, including spinocerebellar ataxia (SCA).

This is a heartfelt appeal on behalf of people living with these devastating rare diseases and their family members. It’s surprising that though 1 in 10 people in the U.S. live with a rare disease (more than cancer and AIDS combined), 95% of all rare diseases do not have a single FDA-approved treatment.

SCA is a group of dominantly inherited neurodegenerative disorders that affects approximately 15,000 people in the U.S. It usually strikes patients in mid-adulthood, and these patients develop a range of symptoms from loss of coordination and balance to speech difficulties, uncontrolled muscle tensing, muscle stiffness, tremors, difficulty swallowing, double vision and even in some cases cognitive decline. As symptoms progress, many patients end up in wheelchairs, needing supportive care and sometimes die prematurely, approximately 10-20 years after the onset of symptoms.

Beyond the physical impact of the disease, the emotional and psychological damage is unfathomable; one study found over 50 percent of people with SCA experience suicidal ideation. In fact, one of the most devastating parts of this disease is the generational impact it has on families, where multiple family members (parents, children, aunts, uncles, cousins) are living with SCA, often at the same time.

It has been more than thirty years since the first specific genetic mutation was discovered for SCA, yet our community waits for the first FDA-approved treatments to become available. The SCA community and those with similar rare diseases desperately need a treatment option that can provide some hope to them and for others in generations to come. 

I urge the FDA to consider the importance of this issue. FDA regulations and guidances have established procedures for FDA to appropriately exercise the broadest flexibility in applying the statutory standards of safety and effectiveness for rare, life-threatening and severely debilitating illnesses, especially where no satisfactory alternative therapy exists (21CFR312.80). The agency must continue to remain a beacon of hope for those living with devastating diseases such as SCA.

Thank you for your attention to this matter.

Sincerely,
Andrew Rosen
Chief Executive Officer, National Ataxia Foundation