Emily Milligan, Executive Director of The Barth Syndrome Foundation, discusses the U.S. Food and Drug Administration’s (FDA) recommendation of approval for Barth syndrome treatment, elamipretide.
Barth syndrome is a rare metabolic and neuromuscular disorder, occurring almost exclusively in males. It primarily affects the heart, immune system, muscles, and growth. The main characteristics of the condition include cardiomyopathy and skeletal myopathy, neutropenia, and growth retardation, potentially leading to short stature. Other signs and symptoms may include increased levels of certain organic acids in the urine and blood (such as 3-methylglutaconic acid), and increased thickness of the left ventricle of the heart due to endocardial fibroelastosis. Barth syndrome is caused by genetic changes in the TAZ gene. There are currently no FDA approved treatments for this disease.
Elamipretide is an investigational peptide compound that penetrates the cell membrane, targeting the mitochondria and binding to cardiolipin. The treatment has shown evidence of increasing mitochondrial respiration and improving ATP production and electron transport chain function. Additionally, it reduces the formation of reactive oxygen species (ROS) levels.
A FDA advisory panel has recommended the approval of elamipretide and has set a PDUFA date of January 29, 2025.
For more information on The Barth Syndrome Foundation, click here.
To learn more about Barth syndrome and other rare metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/
