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The Senate Special Committee on Aging's hearing yesterday examined a source of tension in American health policy under scrutiny this Rare Disease Week: How does a regulator designed to protect patients avoid becoming a barrier preventing access to lifesaving or life-extending treatments? Among a full gallery at the hearing, including family members holding photos of their loved ones, witnesses representing the EveryLife Foundation for Rare Diseases, the Massachusetts General Hospital Ataxia Center, Amicus Therapeutics, and the Cure Sanfilippo Foundation shared their perspectives on opportunities for the U.S. Food and Drug Administration (FDA) to progress rare disease programs.
Regulatory Flexibility: From Paper to Practice
Dr. Jeremy Schmahmann, director of the Massachusetts General Hospital Ataxia Center, delivered a striking plea: "Please help us fix the FDA." He described the ongoing struggle to get a new drug approved for ataxia patients and rejected outright the notion of placebo-controlled or withdrawal studies for a disease causing patients daily, irreversible brain cell loss.
Annie Kennedy, chief mission officer of the EveryLife Foundation for Rare Diseases, highlighted a trend: 23 Complete Response Letters in rare disease programs, many involving reversals of prior regulatory alignment or shifting goalposts. She noted that advisory committees — once a venue for patient voices to contribute their lived experience and for FDA to obtain disease-specific expertise — have not been utilized in months.
Dr. Cara O'Neill, chief science officer and co-founder of the Cure Sanfilippo Foundation, shared the story of children with Sanfilippo syndrome — an invariably fatal neurodegenerative disease of childhood. She shared that a promising gene therapy developed with National Institutes of Health support transformed lives in clinical trials but has yet to achieve broader approval. She noted that in pediatric neurodegeneration, waiting is harmful, and earlier intervention can mean better outcomes for patients.
Bradley Campbell, president and CEO of Amicus Therapeutics, offered both hope and caution. He described a successful journey to develop an assay that identifies responders in Fabry disease, which appeared on the label for the first oral precision medicine for the disease. This is what success looks like when regulators and innovators work together, according to Campbell. But he was direct: Unpredictability risks capital fleeing. He also cautioned that foreign jurisdictions are now excelling at speed and science when it comes to clinical trials.
The panelists emphasized to committee members that Congress has already legislated flexibility for the FDA in the flexibilities provided in development and approval standards, such as accelerated approval. However, the panelists noted that the issue is inconsistent application of those tools.
A Path Forward
Committee chairman Rick Scott acknowledged that FDA Commissioner Marty Makary inherited what he called a broken system that cannot be fixed overnight. But the testimony offered at yesterday's hearing provided a call to action:
- Increase the resources of the Rare Disease Innovation Hub and empower its role in brokering consistency across divisions and centers.
- Use advisory committees and patient engagement tools early and often.
- Apply Congress's benefit-risk framework and flexibilities as intended.
- Restore predictability and collaboration between reviewers and sponsors.
The rare disease community continues to have a strong presence in the discourse and priorities of the current administration, as evidenced in yesterday's Senate hearing.
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