Jacob Wilson knew something had tangibly changed just six months into a clinical trial evaluating an innovative therapy that targets mitochondria, the energy producing structures inside cells.

Jacob Wilson. Photo provided.
Diagnosed at 10 with Barth syndrome, an ultra-rare, life-threatening genetic mitochondrial disorder that primarily affects males, Wilson’s energy was too depleted, his muscles too weak to complete life’s simple tasks, like eating and walking. He never felt rested after a good night’s sleep, missed childhood developmental milestones, faced cardiac issues and was immunocompromised. In 2016, he participated in a clinical trial evaluating the efficacy of elamipretide, a first-in-class drug that targets mitochondria, to help boost energy production. At first, Wilson got winded after walking a block. Six months later, he was outpacing his parents. And he gained 25 pounds in a year.