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.
W Reid ThompsonBrittany HornbyRyan ManuelElena BradleyJanice LauxJim CarrHilary J VernonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
In this interventional clinical trial in BTHS, daily administration of elamipretide led to improvement in BTHS symptoms.