The Potential of Gene Therapy for AADC Deficiency: Paul Wuh-Liang Hwu, MD, PhD

"In terms of AADC deficiency... we inject the virus into the putamen and the virus delivers the DNA to the cells. So the cell will then express the gene we want and the patient starts to synthesize dopamine again, and then they get improvement in their symptoms."

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, according to updated data from a 5-year analysis of 3 clinical trials announced by PTC Therapeutics.^1,2

Children treated with the gene therapy reached milestones such as holding up their heads and sitting or standing with support as early as 3 months after treatment. They 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 the potential of using gene therapy to cure AADC deficiency. He explained that the mechanism of gene therapy is simple in such a 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