Matthew Klein, MD, MS, FACS, Chief Development Officer at PTC Therapeutics, discusses how the company’s investigational gene therapy, AAV2-hAADC, could impact the aromatic L-amino acid decarboxylase (AADC) deficiency patient population.
AADC deficiency is a rare, genetic disorder due to a defect in the dopa decarboxylase (DDC) gene that reduces the synthesis of dopamine, norepinephrine, epinephrine, and melatonin. This leads to limitations in motor function.
As Dr. Klein explains, the importance of this potential cure is two-fold. First, should AAV2-hAADC be approved for the treatment of AADC deficiency, it would be the first approved targeted therapy for this disease. Second, AADC deficiency is an underdiagnosed condition and having an approved targeted therapy will provide incentives to get diagnosed more quickly.
For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/
