Where Discovery Leads is a multimedia storytelling project that delves into key research themes at CHOP Research Institute. This is part one of a three-part series that focuses on novel diagnostic tools and approaches being developed under the leadership of the Center for Autism Research at CHOP. See part 2 and part 3 of the series.
New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders—complex conditions with severe energy deficiency for which no proven effective treatments exist. Future clinical research is needed to explore whether the drug, cysteamine bitartrate, will meaningfully benefit patients.