The U.S. Food and Drug Administration (FDA) has granted fast-track approval for Kebilidi, a groundbreaking gene therapy developed by PTC Therapeutics, Inc., specifically targeting aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder.

Approved on November 14, 2024, Kebilidi is the first gene therapy sanctioned by the FDA for AADC deficiency, which significantly impacts neurotransmitter production.

This innovative therapy works by enhancing the expression of AADC in the brain, which leads to increased dopamine production, crucial for movement and cognitive functions.

Kebilidi is administered through four infusions in a single surgical session, targeting a specific brain structure involved in motor control.

The administration of Kebilidi must occur in specialized medical centers with expertise in pediatric stereotactic neurosurgery to ensure patient safety.

The FDA's approval was based on a clinical trial involving 13 pediatric patients, which demonstrated the therapy's safety and effectiveness.

Kebilidi received multiple designations from the FDA, including Priority Review and Orphan Drug status, along with a rare pediatric disease priority review voucher.

PTC Therapeutics has indicated that long-term follow-up studies are necessary to further validate the therapy's benefits and secure full FDA approval.

AADC deficiency can lead to severe physical, mental, and behavioral disabilities from infancy, including painful seizure-like episodes known as oculogyric crises.

Symptoms of AADC deficiency often include delays in gross motor function, hypotonia, and developmental and cognitive delays.

Common side effects of Kebilidi may include involuntary movements, anemia, fever, low blood pressure, excessive salivation, and sleep issues; it is contraindicated for patients who have not reached skull maturity.

While Kebilidi offers hope, injection-related complications can arise, including breathing or heart problems, and surgical risks such as cerebrospinal fluid leaks and infections.