A rare genetic disease called Barth syndrome leaves the heart and muscles short of energy because a faulty gene disrupts cardiolipin, a fat in the inner mitochondrial membrane. Elamipretide is a small peptide designed to bind cardiolipin and steady that membrane.
In the peer-reviewed study, after a 28-week placebo-controlled trial called TAZPOWER, 10 patients continued on daily elamipretide injections, and 8 reached three years. Their six-minute walk distance improved by 96 meters on average, fatigue scores improved, and heart chamber volumes trended better.
The extension had no placebo group and only a handful of patients, because Barth syndrome is so rare, so it cannot rule out practice effects or chance. Injection-site reactions were the most common side effect. The result shows long-term tolerability and a durable signal rather than proof of benefit.
Read the original study
Thompson et al., Genetics in Medicine, 2024 · doi.org/10.1016/j.gim.2024.101138
A peptide aimed inside mitochondria, still helping three years on.
Source
- Thompson, W. R., Manuel, R., Abbruscato, A., Carr, J., Campbell, J., Hornby, B., Vaz, F. M., & Vernon, H. J. (2024). Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER. Genetics in Medicine, 26(7), 101138. https://doi.org/10.1016/j.gim.2024.101138