Families and researchers in North Carolina are making urgent appeals to the FDA, highlighting the desperate need for faster approval of drugs for rare and ultra-rare diseases that threaten children’s lives. Their message is clear: “Our kids don’t have time.”
Originally reported by Yahoo! News, among those advocating is Madison Dryden, mother to Gilbert, a baby diagnosed at just 16 days old with Barth syndrome, a life-threatening genetic disorder affecting only about 150 people in the United States. Barth syndrome leads to severe heart, muscle, and immune system problems, with nearly half of affected children not surviving past age five. Though Gilbert appears healthy now, his life depends on the investigational drug Elamipretide, which he receives through a compassionate use program.
Elamipretide’s future, however, is uncertain. Despite a positive advisory committee vote and encouraging outcomes in expanded access programs, the FDA recently declined its approval. Researchers and parents, including Lindsay Marjoram of the Barth Syndrome Foundation and Dr. Todd Cade of Duke University, believe the drug has shown meaningful benefit and an excellent safety record. However, challenges in studying ultra-rare diseases—such as small patient populations and difficulty establishing conventional trial endpoints—make it tough to meet the FDA’s usual standards for drug approval.
This struggle is not unique to Barth syndrome. Ashley Haywood, whose daughter Sadie has Sanfilippo syndrome—a devastating childhood dementia—faces similar hurdles. Sadie, once talkative and active, has lost most of her abilities. For families like the Haywoods, investigational drugs such as UX111 are their only hope. Yet, UX111 too was recently declined by the FDA, despite promising clinical data.
Parents and advocates stress that time is critical. Delays of even a few months can mean the loss of critical skills or even life for these children. More than 45,000 people have signed petitions urging the FDA to act more quickly and flexibly for rare disease treatments, taking into account the limited data inherent to small patient populations.
Behind the scenes, families are uniting—sharing stories online, recording joint videos, and meeting with FDA officials to plead their cases. They argue that without expedited action and a willingness to accept real-world evidence, children like Gilbert and Sadie may lose their only chance at survival or a better quality of life.
The FDA has stated its commitment to rare disease drug development and recently launched a Rare Disease Innovation Hub. Still, parents and researchers say the process is not moving fast enough. For families living with the reality of ultra-rare diseases, every day counts, and hope rides on the approval of these life-saving treatments.
As Madison Dryden puts it, “Just the thought of this drug going away is absolutely terrifying… When we had the certainty of Elamipretide, maybe we had a chance of seeing him grow up.” Now, families across North Carolina and beyond are fighting for that chance—for their children’s futures—before time runs out.
