First Brain-Injected Gene Therapy Approved by FDA

The FDA has granted fast-track approval for a groundbreaking gene therapy indicated for a rare genetic disorder called aromatic L-amino acid decarboxylase (AADC) deficiency. The gene therapy, marketed under the brand name Kebilidi, is the first in the United States to be injected directly into the brain. It is approved for children with fully developed skulls and for adults.
AADC is an enzyme that helps your body make the brain chemical dopamine. AADC deficiency affects patients’ physical, mental, and behavioral health from infancy, leading to severe disabilities and shorter lifespan. Children with AADC may also experience painful seizure-like episodes called oculogyric crises.
Kebilidi (generic name: Eladocagene exuparvovec) is injected into a specific area of the brain where it boosts AADC, restoring dopamine production and gradually improving movement-related symptoms. This surgery is to be performed only by brain surgeons in specialized centers.
The FDA approval was based on the therapy’s safety and effectiveness as shown in an ongoing clinical trial involving 13 children diagnosed with AADC deficiency. According to PTC Therapeutics, the maker of Kebilidi, long-term follow-up studies of the participants are still needed, and additional proof of the therapy’s benefits are required for full FDA approval.
Common side effects of Kebilidi therapy may include involuntary movements (dyskinesia), anemia, fever, low blood pressure, excessive salivation, problems sleeping, low blood levels of certain minerals, and complications after the injection, including breathing or heart problems. The surgical procedure for injecting Kebilidi also carries certain risks, such as cerebrospinal fluid leaks, bleeding in the brain, inflammation, strokes, and infections.
SOURCES:
FDA: “FDA Approves First Gene Therapy for Treatment of Aromatic L-amino Acid Decarboxylase Deficiency.”
PTC Therapeutics: “PTC Therapeutics Announces FDA Approval of AADC Deficiency Gene Therapy.”