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FDA Approves Kebilidi, First Gene Therapy for AADC Deficiency

• The FDA has approved eladocagene exuparvovec-tneq (Kebilidi) as the first gene therapy for aromatic I-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder. • Kebilidi delivers the DDC gene directly to the brain, enabling dopamine synthesis and improving motor development milestones in patients with AADC deficiency. • Clinical trials demonstrated significant improvements in motor and cognitive function within one year of treatment, lasting up to five years post-surgery. • The therapy is approved for patients aged 18 months to 65 years, with potential adverse events including dyskinesia, pyrexia, and surgical complications.

The FDA has granted approval to eladocagene exuparvovec-tneq (Kebilidi), a groundbreaking gene therapy developed by PTC Therapeutics Inc., for the treatment of aromatic I-amino acid decarboxylase (AADC) deficiency. This marks the first gene therapy available in the United States that can be administered directly to the brain, offering a new hope for both children and adults affected by this rare genetic disorder.
AADC deficiency is a rare genetic condition that impairs the synthesis of dopamine, leading to severe disability and suffering from early infancy. Symptoms include seizure-like oculogyric crises, behavioral problems, frequent vomiting, and difficulty sleeping. Kebilidi addresses the underlying genetic defect by delivering the DDC gene to the putamen in the brain, enabling de novo synthesis of dopamine and progressive acquisition of motor development milestones.
The approval was supported by data from the phase 1/2 PTC-AADC-GT-002 clinical trial, which demonstrated a significant change from baseline in motor milestone achievement after 48 weeks. These findings build upon previous studies that showed improvements in both motor and cognitive function within one year of surgical administration, with benefits lasting up to five years. Improvements were seen across all patients, with children experiencing the greatest gains.

Clinical Efficacy and Safety

Eladocagene exuparvovec is administered via a stereotactic neurosurgical procedure. While generally well-tolerated, potential adverse events include dyskinesia (reported in 77% of patients), pyrexia (38%), anemia (31%), and hypotension (31%). Respiratory and cardiac arrest were also reported within 24 hours of the procedure. Surgical complications such as cerebrospinal fluid leakage, neuroinflammation, and intracranial bleeding are also possible.

Dosing and Administration

Kebilidi is approved for patients aged 18 months to 65 years who have achieved skull maturity. The treatment involves a one-time administration of the gene therapy directly into the patient's putamen in the brain.

Expert Commentary

"I am proud of our team's unwavering commitment to achieve this important regulatory milestone. We look forward to bringing this transformational gene therapy to children and adults with AADC deficiency in the United States," said Matthew B. Klein, MD, CEO of PTC Therapeutics.
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Reference News

[1]
FDA Approves Gene Therapy to Treat AADC Deficiency
ajmc.com · Nov 14, 2024

FDA approves PTC Therapeutics' eladocagene exuparvovec-tneq (Kebilidi), a gene therapy for AADC deficiency, administered...

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