When Endpoints Miss the Point

Families of children with the ultra-rare mitochondrial disorder pyruvate dehydrogenase complex deficiency, or PDCD, are fighting to get the U.S. Food and Drug Administration to provide a path to approval Saol Therapeutics’ experimental therapy without requiring another trial. The agency refused to approve its therapy late last year, despite gains in survival, biomarkers, and real world function that parents say the trial missed. We spoke with Hope for PDCD Founder and CEO Frances Pimentel and parent board member Kim Higbee about the community’s reaction, the gap between patient experience and study endpoints, and the struggle to get regulators to align their actions with their stated commitments to ultra rare disease patients.