Breakthrough Gene Therapy Successfully Treats Young Patient with Rare Neurological Disorder

Texas Children's Hospital has announced a significant advancement in the treatment of Aromatic L-amino acid decarboxylase (AADC) deficiency, a rare inherited neurological disorder. The medical team successfully administered the first FDA-approved gene therapy to a three-year-old girl, marking a new era in addressing previously untreatable genetic conditions.

AADC deficiency affects the brain's production of critical chemicals like dopamine and serotonin, which are essential for movement regulation, mood, and overall nervous system function. With approximately 350 known cases worldwide, this disorder has historically been associated with a very short lifespan, often between five to seven years, due to the absence of effective treatments.

The innovative therapy, called Kebilidi (eladocagene exuparvovec-tneq), received approval in November 2024 following a comprehensive clinical trial involving Texas Children's and other research sites. It utilizes a modified adeno-associated virus serotype 2 (AAV2) vector, delivered directly into the brain's putamen through a minimally invasive stereotactic neurosurgery. This procedure involves four infusions during a single surgical session and aims to restore enzyme function at the genetic level.

The young patient had experienced developmental delays starting at seven months, including poor muscle control and difficulty maintaining head stability, common symptoms of AADC deficiency. Genetic testing confirmed her diagnosis at 18 months, and she was managed with medication and physical therapy until the new treatment became available.

Dr. Daniel J. Curry, who led the surgical procedure and is a renowned expert in functional neurosurgery, expressed optimism about the outcomes. "The treatment was safely administered without complications. After two weeks of follow-up, the patient and her family are optimistic. While it may take 2 to 6 months to observe significant improvements, early signs like increased energy and happiness are promising," he stated.

This breakthrough stems from Texas Children's contribution to the pivotal clinical trial, emphasizing the importance of innovation in genetic medicine. Dr. Curry, also director of the Neuroinfusion Service, highlighted the broader potential of gene therapy to reverse neurological deficits and treat various neurodegenerative diseases.

This development offers new hope for patients with AADC deficiency and paves the way for future gene-based treatments for complex neurological disorders, transforming the approach to inherited conditions that once had no viable solutions.