Barth SyndromeA rare, genetic disorder of lipid metabolism that primarily affects males. – When the Lack of Fair, Equitable and Appropriate Regulatory Review Process Jeopardizes Ultra-Rare Drug Development
Barth Syndrome Foundation Executive Director Emily Milligan, and Director of Family Services & Advocacy, Shelley Bowen join me for a discussion about the latest news surrounding the foundation’s treatment efforts and the families affected by Barth Syndrome. Listeners can help pave the way for future rare and ultra-rare drug development by signing their petition to the FDA and speaking out to local representatives.
EPISODE HIGHLIGHTS
What is Barth Syndrome?
It’s a rare disease, affecting mostly males, that affects about one of a million individuals. We currently have about 130 people in the United States who have been diagnosed. The symptoms include cardiomyopathyAn abnormal condition of the heart muscle. Occurs in some kinds of mitochondrial disease., NeutropeniaAn abnormally low number of neutrophils, an abundant type of white blood cell that constitutes the first line of defense against microbes that enter the body. It is characteristic of some forms of mit, low muscle mass and muscle weakness, exercise intolerance and feeding problems. Barth Syndrome is often fatal and there aren’t currently any cures for the rare disorder.
Have there been any recent advancements in treatments for Barth Syndrome?
There are no FDA-approved therapies for Barth Syndrome. The latest stage development opportunity we have is a drug called Elamipretide. We’ve been working on this effort for years and we’re hoping the FDA will accept a new drug application for this product.
What benefits does Elamipretide offer Barth Syndrome patients?
One of the greatest burdens that affects quality of life is overwhelming fatigueThe overall feeling of tiredness or lack of energy. It is not the same as simply feeling drowsy or sleepy. Being fatigued means having no motivation or energy.. With this drug, we’ve seen real-world evidence that patients are feeling better and are able to enjoy life with improved energy. We’ve also seen improved cardiac function.
What determines one research-based drug passing through regulators and one drug not?
There’s a lot of inconsistency around drugs being reviewed at the FDA and it’s frustrating. We have done a lot of work to help the FDA to recognize and appreciate the nuances of the Barth Syndrome community and how ultra-rare it is. Unfortunately, the FDA is asking us to find more patients, but by the definition of ultra-rare, there are no more patients. We are asking for a fair, equitable and fair review by the FDA– for them to look at the open-label extension data, the natural history comparison data and listen to the patient perspectives which will substantiate real-world claims and results. While the FDA has regulatory flexibility, smaller populations can’t conform to the same regulation standards as larger populations.
LINKS AND RESOURCES MENTIONED
https://www.barthsyndrome.org/welcome.html
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