AANS Online Scientific Session: Pediatrics-Gene Therapy For The Treatment Of Primary L-Aromatic Amino Acid Decarboxylase Deficiency In Children

Gene Therapy For The Treatment Of Primary L-Aromatic Amino Acid Decarboxylase Deficiency In Children

Video Transcription

Video Summary

This presentation discusses gene therapy for the treatment of Primary L Aromatic Amino Acid Decarboxylase (AADC) deficiency in children. AADC deficiency is a rare genetic disorder that causes motor delays, cognitive impairment, and other symptoms. The study aimed to deliver a normal AADC gene to specific areas of the brain to improve dopamine signaling. The results of the phase 1-2 study in seven subjects showed improvements in motor milestones, motor function, and non-motor symptoms. Adverse events were minimal, except for one unrelated fatality. The study concludes that midbrain delivery of the AADC gene can be done safely and effectively. Funding was provided by NIH.

Asset Subtitle

Nalin Gupta, MD, PhD, FAANS

Keywords

gene therapy

Primary L Aromatic Amino Acid Decarboxylase deficiency

AADC deficiency

motor delays

cognitive impairment