Elamipretide for treating Barth syndrome

Elamipretide is in development for the treatment of Barth syndrome. Barth syndrome is a very rare genetic condition that mainly affects males. It is caused by mutations in the TAZ gene which produces a protein called tafazzin. This protein is critical to normal mitochondrial structure and function. Mitochondria are structures in the cell which help make energy. In people with Barth syndrome, loss of tafazzin mainly affects energy-requiring organs like heart and skeletal muscles. It is characterised by various heart problems, a low level of white blood cells, muscle weakness, fatigue, exercise intolerance and growth delay. There are currently no disease-specific treatments for Barth syndrome.