Researchers at The Children’s Hospital of Philadelphia (CHOP) headed by Marni J. Falk, M.D., director and attending physician in the Mitochondrial-Genetic Disease Clinic, focused on a group of respiratory enzymes (called respiratory chain RC enzymes), which are essential for the production of energy. When disrupted (due to mitochondrial defects and mutations…
Raptor Pharmaceuticals Inc. is looking to bring relief to a wide variety of young patients with inherited mitochondrial disease through its therapeutic called RP103 (cysteamine bitartrate delayed-release capsules). A Phase 2/3 clinical trial is currently recruiting and treating patients with diseases resulting from nuclear or mitochondrial DNA mutations, which…
A collaboration between researchers from Leeds’ St. James’s University Hospital, University College London (UCL) and the Institute of Child Health (UCL) identified a gene mutation affecting mitochondrial calcium (Ca2+) levels in individuals with muscular disease (myopathy), learning and movement deficits. The study included data collected by the UK10K Consortium and…
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