FDA Approves First treatment for Rare Mitochondrial Disorder Barth Syndrome
Washington, D.C. – The Food and Drug Administration (FDA) has approved elamipretide for the treatment of Barth syndrome,a rare and life-threatening genetic disorder affecting the mitochondria. This marks the first approved therapy specifically for this condition, offering new hope for patients and families.
Barth syndrome primarily impacts males and is characterized by abnormalities in cardiolipin, a vital lipid for mitochondrial function, leading to energy defects and affecting multiple organ systems, particularly the heart and muscles.
The approval is based on data from a 28-week randomized,double-blind,placebo-controlled clinical trial conducted at Johns hopkins Hospital in 2017,with a long-term extension concluding in 2021. The trial, involving ten initial participants, demonstrated significant improvements in patients receiving elamipretide. Eight of those participants completed the 168-week visit. Findings from both the initial trial and the extension were published in the journal Genetics in Medicine in 2023.
during the trial extension, participants showed an average improvement of 96.1 meters in six-minute walk tests compared to their baseline measurements. Improvements were also observed in cardiac stroke volume, a key indicator of heart function. Researchers also noted improved cardiolipin levels and reduced fatigue reported by participants. An FDA advisory committee confirmed the drug’s effectiveness in October 2024.
“We thought we could take these results showing the effect of elamipretide on abnormal cardiolipin in Barth syndrome cell models to help patients with Barth syndrome,” said dr. Jennifer Vernon of Johns Hopkins Medicine, who led the research.
The progress of elamipretide stemmed from laboratory research demonstrating its ability to improve energy production and protein complex assembly within mitochondria by interacting with cardiolipin. These findings were published in the Journal of Biological Chemistry in 2021. The initial cell modeling research was supported by the National Heart, Lung, and Blood Institute of the National institutes of Health (F31HL147454).The clinical trial was funded by Stealth BioTherapeutics, a Massachusetts-based drug company. Dr. Vernon currently receives research funding support from Stealth BioTherapeutics and has recently received additional NIH funding to investigate the prenatal effects of Barth syndrome.
