PTC Therapeutics has received FDA approval for Kebilidi (eladocagene exuparvovec-tneq), a gene therapy targeting aromatic l-amino acid decarboxylase (AADC) deficiency. This marks a significant advancement in treating this rare genetic disorder, which causes severe disability and suffering from the first months of life, affecting physical, mental, and behavioral aspects.
Mechanism of Action
Kebilidi is a recombinant adeno-associated virus serotype 2 (rAAV2)-based gene therapy containing the human DDC gene. It aims to correct the underlying genetic defect by delivering a functioning DDC gene directly into the putamen, enhancing the AADC enzyme and restoring dopamine production. The therapy is administered through a minimally invasive stereotactic surgical procedure performed by qualified neurosurgeons in specialized centers.
Clinical Significance
The FDA's accelerated approval of Kebilidi is based on safety and clinical efficacy findings from an ongoing global clinical trial. AADC deficiency leads to symptoms such as painful episodes similar to seizures, a stuck upward gaze, dystonia, and inconsolability. Kebilidi represents a potential transformative treatment for children and adults with this condition.
Company Statement
PTC Therapeutics CEO Matthew Klein stated, "PTC has once again pioneered a new approach to treating highly morbid neurologic diseases. I am proud of our team’s unwavering commitment to achieving this important regulatory milestone. We look forward to bringing this transformational gene therapy to children and adults with AADC deficiency in the United States."
Regulatory Milestone
Along with the Biologics License Application (BLA) for Kebilidi, the FDA also granted a Rare Disease Priority Review Voucher for the drug. PTC is preparing to launch the drug in the U.S., with centers of excellence already identified and surgeons trained in the procedure to deliver the gene therapy.
