A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

Reid Thompson W, Hornby B, Manuel R, et al. · Genetics in Medicine

In the blinded crossover phase neither primary endpoint improved versus placebo (6-minute walk −0.8 m, p = 0.97; fatigue score +0.06, p = 0.89); significant gains appeared only in the uncontrolled open-label extension (+95.9 m walk distance at week 36). Injection-site erythema occurred in 12/12 on drug versus 3/12 on placebo.

Population

12 males with genetically confirmed Barth syndrome, aged 12-35 (TAZPOWER)

Intervention

Elamipretide 40 mg subcutaneous daily for 12 weeks, crossover

Comparator

Placebo, 4-week washout between periods

Limitations

Twelve patients; 12-week periods may be too short for a chronic myopathy; the positive part is open-label and uncontrolled; sponsor co-author; no joint or cartilage endpoint of any kind.