For Dr. Amy Goldstein, medicine isn’t confined to clinic hours or academic papers. It’s a 3 a.m. phone call to the FDA, begging for access to a drug that might save a baby’s life.
A physician at Children’s Hospital of Philadelphia and a national leader in rare disease care, Dr. Goldstein has seen firsthand the brutal toll of Barth syndrome—an ultra-rare mitochondrial disorder that sabotages the body’s energy production and leaves patients vulnerable to heart failure, infections and relentless fatigue.
“I’ve had patients in cardiac failure requiring ECMO, LVADs and months in the cardiac ICU,” she says. “These families are away from home, away from work, away from everything they know—just praying their child survives.”
For years, Dr. Goldstein and a network of advocates, families and researchers have pushed to bring hope to these patients in the form of a therapy called elamipretide. The investigational drug, developed by Stealth BioTherapeutics, targets mitochondrial function—the very heart of Barth syndrome’s destruction.
She has watched this drug transform lives.
“When we give elamipretide through expanded and/or emergency access programs, we see improvement,” Dr. Goldstein says. “Cardiac function stabilizes. Muscle strength returns. Kids go home.”
But as she speaks, those same patients—some of them infants in CICUs, others young adults finally finding their footing—are staring down the threat of losing access. Despite a 10-6 advisory committee vote in favor of its effectiveness, the FDA delayed its decision on whether to approve the drug last month.
For Dr. Goldstein, that delay is a potential death sentence.
“If this drug is not approved, people with Barth will suffer. Some will die,” she says bluntly. “We are in a race against time.”
In the past year alone, she’s written editorials, published papers and testified at the FDA’s advisory committee meeting. She’s picked up the phone in emergencies—calling the FDA in the middle of the night to plead for individual patients under emergency access rules.
And she’s not doing it alone.
“We have an incredible team—our trials coordinator Laura MacMullen, ICU physicians, nurses, technologists and social workers in addition to partners at the Barth Syndrome Foundation, Stealth BioTherapeutics, MitoAction, UMDF,” she says. “Everyone is pushing toward the same goal: get this therapy to the people who need it. And none of us can do it alone.”
But good intentions don’t guarantee progress. Even in medicine, bureaucracy can slow hope to a crawl.
“The FDA has the data,” she says. “They have the authority. What they need now is the will.”
Dr. Goldstein isn’t just speaking as a physician. She’s speaking as a witness—to suffering, to resilience and to the very real promise of a treatment that works.
“We finally have something,” she says. “We can’t let it slip away because the disease is rare. Rarity should not equal invisibility.”
She dreams of seeing her patients stay on elamipretide long term—not just for a few weeks under expanded or emergency access, but as a sustained therapy that gives them a real shot at life.
“Because that’s what this is about,” she says. “Letting these kids live the lives they deserve.”
Call to Action
The Barth Syndrome Foundation and leading medical experts urge the FDA to:
• Expedite the final review of elamipretide
• Provide a firm decision date
• Approve the therapy for all patients with Barth syndrome
To add your voice, visit www.barthsyndrome.org or read the full statement: Barth Syndrome Foundation Calls for Urgent FDA Action
