AADC Deficiency Study – Targeting the Putamen with Gene Therapy

Dr. Matthew Klein, MD, Chief Development Officer at PTC Therapeutics discusses Aromatic l-amino acid decarboxylase (AADC) deficiency, a very rare genetic disorder, and the results of a study published in “EMBO Molecular Medicine” from experts at leading children’s hospitals around the world, including Boston Children’s Hospital, that describes multiple clinical trials in which a novel gene therapy, AAV2-hAADC, was infused into the putamen of 20 children with AADC deficiency via brain surgery. Following the therapy all showed significant improvements. He also talks about PTC’s rapidly advancing gene therapy pipeline, which includes AAV2-hAADC. 

Matthew Klein, MD, MS, FACS is Chief Development Officer at PTC Therapeutics. Prior to joining PTC, Dr. Klein was CEO and Chief Medical Officer of BioElectron Technology Corporation, a biotechnology company focused on development of redox active small molecules for mitochondrial disease and related disorders of oxidative stress. Prior to joining BioElectron, Dr. Klein was the Auth-Washington Research Foundation Chair of Restorative Burn Surgery at the University of Washington. Dr. Klein completed his undergraduate degree at the University of Pennsylvania where he graduated summa cum laude and Phi Beta Kappa, and received his MD degree with honors from Yale University.