FDA approves novel gene therapy for rare neurometabolic disorder

The FDA has approved an adeno-associated virus vector-based gene therapy to treat both adult and pediatric patients with aromatic L-amino acid decarboxylase deficiency.

According to an FDA release, Kebilidi (eladocagene exuparvovec-tneq, PTC Therapeutics Inc.) is the first gene therapy approved for the rare neurometabolic disorder, which affects the body’s ability to produce neurotransmitters that allow cells in the central nervous system to function properly. Symptoms of the condition include motor function delays, developmental and cognitive delays, as well as weak muscle tone.

The approval was based on data from an open-label, single-arm clinical study of 13 pediatric patients with confirmed diagnosis of aromatic L-amino acid decarboxylase deficiency (AADC). Motor milestone assessments were completed for 12 of 13 patients at week 48 following treatment administration, with gross motor function improvement recorded in eight of the 12 patients, per the release.

The FDA further stated that Kebilidi should be administered in a clinical setting that specializes in pediatric stereotactic neurosurgery. The treatment is delivered through four infusions during one surgical session into a large structure, then funneled into a section of the brain that controls motor function, resulting in expression of AADC and subsequent increase in dopamine production.

The FDA concurrently authorized the SmartFlow Neuro Cannula, an infusion tube produced by ClearPoint Neuro Inc. The device, which is inserted into the brain’s parenchymal tissue, is the sole approved method to deliver Kebilidi, according to the release.

“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,” Peter Marks, MD, PhD, director of the FDA’s Center for Biologics Evaluation and Research, said in the release. “Today’s approval underscores our commitment to help make safe and effective treatments available for patients in need.”