Challenges in Developing Gene Therapy for AADC Deficiency: Paul Wuh-Liang Hwu, MD, PhD


The professor from National Taiwan University Hospital discussed the challenges of working with a rare disease.

"In this disease, AADC deficiency, there are maybe 100 surviving patients in the world. So, it's really difficult to find a way to collect resources and put together the patients.”

PTC-AADC (PTC Therapeutics) is a novel gene therapy being investigated for the potential treatment of aromatic L-Amino acid decarboxylase (AADC) deficiency. PTC Therapeutics recently announed updated data from a 5-year analysis of 3 clinical trials assessing PTC-AADC which showed improvements in development, motor skills, and cognition in treated children with AADC deficiency.1,2

The data showed that treated children were able to hold up their heads and sit or stand with support as early as 3 months after treatment, milestones that are normally not reached in children with the deficiency. The children also had improved communication skills via Bayley-3 scores. These data were presented at the 50th Child Neurology Society (CNS) Annual Meeting, September 29 to October 2.

GeneTherapyLive spoke with investigator Paul Wuh-Liang Hwu, MD, PhD, professor, pediatrics, National Taiwan University Hospital, to learn more about researching and developing gene therapies for AADC-deficiency. He discussed the challenges of working in a rare disease.

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.
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
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