Only about 5% of rare diseases have an FDA-approved treatment
Only about 5% of rare diseases have FDA-approved treatments, leaving patients like Jennifer Perry, diagnosed with spinalcerebellar ataxia, reliant on experimental drugs like Biohaven’s treatment, which may slow disease progression but remains unapproved despite resubmission with new evidence. Perry’s case highlights the urgent need for more FDA-approved therapies, as her grandfather and mother also suffered from the same degenerative condition with limited medical options.
Jennifer Perry, a Tiverton woman, faces a rare inherited neurological disease called spinalcerebellar ataxia, which affects balance, gait, and swallowing. The condition, impacting about 150,000 people in the U.S., has left Perry’s mother wheelchair-bound and her grandfather bedridden in his final years. Perry, diagnosed at 44, has participated in multiple clinical trials, including one for an experimental drug from Biohaven that appears to slow her disease progression. Dr. Penny Greenstein, a neurologist and geneticist at Beth Israel Deaconess Hospital in Boston, has treated both Perry and her mother. The experimental drug, initially denied by the FDA, was resubmitted with new evidence and is now under review. Greenstein notes that without approval, patients like Perry could lose access to treatments that improve their quality of life. ‘If the drug is not approved, we risk taking away a medicine that we know can help,’ she said. Perry remains active, enjoying time with her three children, seven grandchildren, and fiancé Kevin, despite her condition. Greenstein believes the drug has delayed her decline, as Perry would likely be wheelchair-bound by now if treated in her mother’s era. The case underscores the broader challenge: only about 5% of rare diseases have FDA-approved treatments, leaving most patients without viable options. The FDA’s decision on Biohaven’s drug will determine whether Perry and others with spinalcerebellar ataxia gain access to a potentially life-changing treatment. Meanwhile, Perry’s story reflects the urgent need for more research and approvals in rare disease therapy.
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