New molecular entity
Development and Regulatory status
Phase III Clinical Trials
Mitochondrial permeability transition pore inhibitor
Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males. Primary characteristics include cardioskeletal myopathy, neutropenia and growth retardation potentially leading to short stature [3,4]. Epidemiologists in the US estimate the incidence of Barth syndrome to be between 1 in 200,000 to 1 in 400,000 births. These figures may be underestimated as many cases go undiagnosed .