PTC Therapeutics gets FDA approval for AADC deficiency gene therapy

PTC Therapeutics announced that the U.S. FDA has granted accelerated approval of its gene replacement therapy for the treatment of AADC deficiency, marking the first-ever gene therapy approved in the U.S. that is directly administered to the brain.

Branded Kebilidi, eladocagene exuparvovec-tneq is indicated for the treatment of children and adults with AADC deficiency — a rare, severe, genetic neurometabolic disorder — including the full spectrum of disease severity. 

AADC deficiency is a highly morbid, life-shortening disorder that results in the inability to synthesize dopamine, a neurotransmitter essential for motor function. Kebilidi, an rAAV2-based gene therapy, is directly administered to the putamen of the brain through a stereotactic neurosurgical procedure. It is designed to correct the underlying genetic defect by delivering a functioning DDC gene directly into the putamen, increasing the AADC enzyme and restoring dopamine production. In clinical trials, this was followed by the progressive acquisition of motor development milestones.

The administration procedure for Kebilidi is performed by a qualified neurosurgeon in centers specializing in stereotactic neurosurgery. Kebilidi is authorized to be administered using Clearpoint Neuro’s SmartFlow Neuro Cannula, a device that can bypass the blood brain barrier and deliver therapeutics to regions of interest using convection enhanced delivery under direct image guidance.

According to PTC, launch preparations are already underway, with centers of excellence already identified and surgeons trained in the procedure to deliver the gene therapy. 

PTC won approval for the therapy in the EU back in 2022, under the brand name Upstaza. The approval is limited to those AADC deficiency patients with a severe phenotype, whereas the FDA approval applies to the full spectrum of the disease.

The FDA approval also came with rare disease priority review voucher, which PTC says it plans to monetize.