The FDA has granted accelerated approval for Kebilidi (eladocagene exuparvovec), a groundbreaking gene therapy for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. This marks the first gene therapy approved in the United States that is administered directly into the brain. The therapy is indicated for both children with fully developed skulls and adults affected by this rare genetic disorder.
AADC deficiency is a rare genetic condition that impairs the body's ability to produce dopamine, a critical neurotransmitter. This deficiency manifests early in life, leading to significant physical, mental, and behavioral impairments, including severe disabilities and a shortened lifespan. Patients may also experience oculogyric crises, characterized by painful, seizure-like episodes.
Kebilidi works by delivering a functional gene directly into a specific region of the brain, thereby increasing AADC enzyme production and restoring dopamine synthesis. This aims to improve motor-related symptoms and overall neurological function. The gene therapy is administered via a surgical procedure performed by specialized brain surgeons at designated centers.
The FDA's approval was based on data from an ongoing clinical trial involving 13 children with AADC deficiency. While the therapy demonstrated safety and effectiveness in this patient group, PTC Therapeutics, the manufacturer of Kebilidi, notes that long-term follow-up studies are necessary to confirm the durability of the treatment's benefits and to secure full FDA approval.
Common side effects observed during the clinical trial included involuntary movements (dyskinesia), anemia, fever, low blood pressure, excessive salivation, sleep disturbances, and decreased levels of certain minerals. The surgical procedure itself carries risks such as cerebrospinal fluid leaks, bleeding in the brain, inflammation, stroke, and infection. These risks necessitate careful patient selection and monitoring.
