Targeting the Putamen in AADC Deficiency: Paul Wuh-Liang Hwu, MD, PhD

Video

The professor from National Taiwan University Hospital discussed the benefits of delivering gene therapy directly to the putamen in AADC deficiency.

"More aggressive, systemic treatments... can cause liver damage and damage other cells. In comparison, we deliver not very vigorously spreading virus by local injection [to the putamen]. The treatment is just involved in that region and does not spread out too much. That is safer and more effective.”

PTC Therapeutics recently announced updated data from a 5-year analysis of 3 clinical trials assessing PTC-AADC, a novel gene therapy delivered to the putamen for the potential treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. The analysis showed improvements in development, motor skills, and cognition in treated children with AADC deficiency.1,2

Results from the analysis were presented at the 50th Child Neurology Society (CNS) Annual Meeting, September 29 to October 2, 2021. Investigators found that across trials, treated participants reached milestones not usually seen in the natural history of AADC deficiency, including being able to hold up their heads and sit or stand with support as early as 3 months after treatment. Communication skills also improved, as measured 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 putamen as a target for gene therapy in AADC deficiency. 

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
Related Videos
Frederick “Eric” Arnold, PhD
Genovefa (Zenia) Papanicolaou, MD, an infectious diseases specialist at Memorial Sloan Kettering Cancer Center
Jeffrey Chamberlain, PhD, on Exciting New Research at MDA 2024
Alan Beggs, PhD, on Challenges in Therapeutic Development for Rare Diseases
Akshay Sharma, MBBS, a bone marrow transplant physician at St. Jude Children’s Research Hospital
PJ Brooks, PhD
John DiPersio, MD, PhD, the director of the Center for Gene and Cellular Immunotherapy at Washington University School of Medicine
Carlos Moraes, PhD, on Understanding Mitochondrial Mutations for Neurodegenerative Diseases
Aude Chapuis, MD, an associate professor in the Translational Science and Therapeutics Division at Fred Hutch Cancer Center
Amar Kelkar, MD, a stem cell transplantation physician at the Dana-Farber Cancer Institute
© 2024 MJH Life Sciences

All rights reserved.