Gene Therapy Yields Improvements in AADC-Deficiency: Paul Wuh-Liang Hwu, MD, PhD

"Those patients [with AADC deficiency], especially with a classic type or severe type of the disease, have no available effective medical treatments. So, we started treating patients with gene therapy here and they have a chance to become better and to have improvements in their disease.”

Updated data from a 5-year analysis of 3 clinical trials announced by PTC Therapeutics demonstrate that treatment with the novel gene therapy PTC-AADC leads to durable developmental, motor, and cognitive improvements in children with aromatic L-Amino acid decarboxylase (AADC) deficiency.1,2

The data were presented at the 50th Child Neurology Society (CNS) Annual Meeting, September 29 to October 2. Treated children reached milestones such as holding up their heads and sitting or standing with support as early as 3 months after treatment. Children also had improved communication skills via Bayley-3 scores.

GeneTherapyLive spoke with investigator Paul Wuh-Liang Hwu, MD, PhD, professor, pediatrics, National Taiwan University Hospital, to learn more about the studies included in the analysis, and he provided an overview of some of the improvements seen in patients with AADC deficiency treated with PTC-AADC.

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