FDA Approves Kebilidi, a Novel Gene Therapy for AADC Deficiency

• The FDA has approved Kebilidi (eladocagene exuparvovec-tneq), a gene therapy for both adult and pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency.
• Kebilidi is the first gene therapy approved for AADC deficiency, a rare neurometabolic disorder affecting neurotransmitter production and central nervous system function.
• Approval was based on a clinical study of 13 pediatric patients, with motor function improvement recorded in eight patients at week 48 following treatment.
• The FDA also authorized the SmartFlow Neuro Cannula for Kebilidi delivery, administered via infusions into the brain to increase dopamine production.

The FDA has granted approval to Kebilidi (eladocagene exuparvovec-tneq), a novel adeno-associated virus vector-based gene therapy developed by PTC Therapeutics Inc., for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency in both adult and pediatric patients. This marks a significant advancement in the treatment of this rare neurometabolic disorder, which impairs the body's ability to produce essential neurotransmitters, thereby disrupting central nervous system function.

AADC deficiency leads to a range of debilitating symptoms, including motor function delays, developmental and cognitive impairments, and weak muscle tone. The approval of Kebilidi offers a new therapeutic avenue for patients who currently have limited treatment options.

The approval was primarily based on data derived from an open-label, single-arm clinical study involving 13 pediatric patients diagnosed with AADC deficiency. Assessments of motor milestones at week 48 post-treatment showed that eight out of the twelve evaluated patients experienced notable improvements in gross motor function. These results underscore the potential of Kebilidi to address the critical unmet needs in this patient population.

Kebilidi is administered through four infusions during a single surgical session directly into a brain structure responsible for motor function control. This precise delivery method facilitates the expression of AADC and subsequently elevates dopamine production, addressing the underlying cause of the deficiency.

SmartFlow Neuro Cannula Authorization

Alongside the approval of Kebilidi, the FDA also authorized the SmartFlow Neuro Cannula, an infusion tube manufactured by ClearPoint Neuro Inc. This device is the only approved method for delivering Kebilidi, ensuring precise and safe administration of the gene therapy into the brain's parenchymal tissue.

Expert Commentary

"Clinical advancements in the field of gene therapy continue to lead to the discovery and availability of innovative treatment options for rare diseases that are otherwise difficult to manage," said Peter Marks, MD, PhD, director of the FDA’s Center for Biologics Evaluation and Research. "Today’s approval underscores our commitment to help make safe and effective treatments available for patients in need."