The U.S. Food and Drug Administration (FDA) has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq), a gene therapy developed by PTC Therapeutics, Inc., for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. This marks the first gene therapy approved in the United States that is directly administered to the brain, offering a potential breakthrough for patients with this rare and debilitating genetic disorder.
Kebilidi: Restoring Dopamine Production
AADC deficiency is a rare genetic condition that impairs the body's ability to produce dopamine, a crucial neurotransmitter for motor function. Kebilidi is a recombinant adeno-associated virus serotype 2 (rAAV2)-based gene therapy designed to address this deficiency by delivering a functional DDC gene directly into the putamen of the brain. This increases the AADC enzyme and restores dopamine production.
Clinical Trial Evidence
The accelerated approval of Kebilidi is based on safety and efficacy data from an ongoing global clinical trial (PTC-AADC-GT-002). The trial demonstrated that gene therapy leads to de novo synthesis of dopamine, followed by progressive acquisition of motor development milestones. Continued approval is contingent upon verification and description of clinical benefit in a confirmatory clinical trial.
Administration and Procedure
Kebilidi is administered through a stereotactic surgical procedure, a minimally invasive neurosurgical technique. The therapy is delivered directly to the putamen by a qualified neurosurgeon in specialized centers. The SmartFlow Neuro Cannula is authorized for use during administration.
Impact on Patients with AADC Deficiency
AADC deficiency is a severe and life-threatening disorder that typically manifests in the first months of life. It leads to significant disability, affecting physical, mental, and behavioral aspects. Patients often experience oculogyric crises, which are distressing episodes resembling seizures. The condition necessitates ongoing physical, occupational, and speech therapy, as well as interventions to manage life-threatening complications.
PTC Therapeutics' Commitment
"PTC has once again pioneered a new approach to treating highly morbid neurologic diseases," said Matthew B. Klein, M.D., chief executive officer, PTC Therapeutics. "We look forward to bringing this transformational gene therapy to children and adults with AADC deficiency in the United States."
Commercialization and Access
PTC Therapeutics is actively preparing for the launch of Kebilidi in the United States, with centers of excellence already identified and surgeons trained in the administration procedure. The company also received a Rare Disease Priority Review Voucher, which it plans to monetize.
