Another ultra-rare therapy will soon be subject to the gaze of an FDA advisory committee, with the fate of more than 200 boys diagnosed with Barth syndrome worldwide in the balance. On Thursday, the FDA cardiovascular and renal drugs advisory committee will be reviewing a new drug application for elamipretide hydrochloride injection, submitted by Stealth BioTherapeutics Inc., for the treatment of Barth syndrome.
Barth syndrome is a rare, one in a million X-linked genetic disease of the Tafazzin (TAZ) gene, which impacts cardiolipin, an essential lipid in the mitochondria needed for energy creation. The boys affected by Barth syndrome get sick very early in life with cardiac failure and other muscle-related symptoms and, like other ultra-rare diseases, there hasn’t been any therapeutic option available to them. Their only hope is a heart transplant.
Elamipretide is a novel peptide that can counteract the underlying cardiolipin problem and improve energy function as shown in in vitro and in relevant animal models. The science is strong and replicable, but translating this to the clinic is always harder in ultra-rare diseases. A small, randomized study was completed in just 12 patients using a double-crossover design to get the most data with the very limited resources and extremely limited population available.
