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Importance of Screening and Early Treatment in Genetic Disorders: Paul Wuh-Liang Hwu, MD, PhD

The professor from National Taiwan University Hospital discussed gene therapy studies in AADC deficiency, Parkinson disease, SMA, and Pompe disease.

“We developed newborn screening and early treatment for AADC deficiency, SMA and Pompe disease... Age is a very important factor because of neuronal plasticity... that ability of reshaping just decreases rapidly over the first few years of life so, for different reasons, earliest treatment should be best for [all these diseases].”

The novel gene therapy PTC-AADC (PTC Therapeutics) has shown efficacy and safety in treating aromatic L-amino acid decarboxylase (AADC) deficiency, according to a 5-year analysis of 3 clinical trials. The analysis demonstrated improvements in development, motor skills, and cognition in treated children with AADC deficiency.1,2

PTC Therapeutics presented data from the analysis at the 50th Child Neurology Society (CNS) Annual Meeting, September 29 to October 2, 2021. The data, from across 3 trials, showed that communication skills as measured via Bayley-3 scores improved in treated children and milestones that are normally not reached in the natural history of AADC deficiency, such as being able to hold up the head and sit or stand with support, were achieved as early as 3 months after treatment.

GeneTherapyLive spoke with investigator Paul Wuh-Liang Hwu, MD, PhD, professor, pediatrics, National Taiwan University Hospital (NTUH), to learn more about the importance of early treatment in genetic disorders. He discussed a gene therapy trial NTUH conducted in Parkinson disease as well as newborn screening studies he is investigating in spinal muscular atrophy and Pompe disease.

REFERENCES
1. Results show long-lasting and holistic improvements in children with AADC deficiency treated with PTC-AADC gene therapy. News release. PTC Therapeutics. September 29, 2021. https://www.prnewswire.com/news-releases/results-show-long-lasting-and-holistic-improvements-in-children-with-aadc-deficiency-treated-with-ptc-aadc-gene-therapy-301387687.html
2. Hwu PWL, Kiening K, Anselm I, et al. Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021;13:e14712. doi:10.15252/emmm.202114712