Matthew Klein, MD, MS, FACS, Chief Development Officer at PTC Therapeutics, discusses the results of a study evaluating intraputaminal gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency. These results were published in a recent issue of EMBO Molecular Medicine.
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, not only does this particular gene therapy, AAV2-hAADC, provide patients with a working copy of the DDC gene, but the working copies are also being delivered via stereotactic surgery directly into the putamen, which plays a crucial role in motor function.
Overall, the results of this study were positive. The researchers were able to demonstrate that, following the gene therapy administration, dopamine levels were elevated and some patients regained motor function. Additionally, the treatment was shown to provide these benefits eight or more years after administration.
For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/