PTC Therapeutics Announces FDA Approval of AADC Deficiency Gene Therapy

PTC Therapeutics, Inc. recently announced the US FDA accelerated approval of its gene therapy for the treatment of AADC deficiency, the first-ever gene therapy approved in the US that is directly administered to the brain.

“PTC has once again pioneered a new approach to treating highly morbid neurologic diseases,” said Matthew B. Klein, MD, Chief Executive Officer, PTC Therapeutics. “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 US.”

The gene therapy, which will be marketed in the US with the brand name KEBILIDI (eladocagene exuparvovec-tneq), is indicated for the treatment of children and adults with AADC deficiency, including the full spectrum of disease severity. Launch preparations are well underway, with centers of excellence already identified and surgeons trained in the procedure to deliver the gene therapy.

AADC deficiency is a highly morbid and life-shortening rare genetic disorder that results in the inability to synthesize dopamine, a neurotransmitter essential for motor function. KEBILIDI is a gene replacement therapy that is directly administered to the putamen of the brain through a stereotactic neurosurgical procedure. Clinical trial results demonstrate that following gene therapy, de novo synthesis of dopamine occurs, followed by the progressive acquisition of motor development milestones.

KEBILIDI received accelerated approval based on the safety and clinical efficacy findings in the ongoing global clinical trial of the gene therapy (PTC-AADC-GT-002). Confirmatory evidence will be provided from the long-term follow up of patients already treated in the study.

Along with the Biologics License Application approval, a Rare Disease Priority Review Voucher was granted. The company plans to monetize the voucher.

AADC deficiency is a fatal, rare genetic disorder that typically causes severe disability and suffering from the first months of life, affecting every aspect of life—physical, mental and behavioral. The suffering of children with AADC deficiency may be exacerbated by oculogyric crises, which are distressing, painful episodes that resemble seizures and are characterized by a stuck upward gaze, dystonia, and inconsolability.

The lives of affected children are severely impacted and shortened. Ongoing physical, occupational and speech therapy, and interventions, including surgery, are also often required to manage potentially life-threatening complications, such as infections and severe feeding and breathing problems.

KEBILIDI is a recombinant adeno-associated virus serotype 2 (rAAV2)-based gene therapy, containing the human DDC gene. 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.

Administration of KEBILIDI occurs through a stereotactic surgical procedure, a minimally invasive neurosurgical procedure used for the treatment of a number of pediatric and adult neurological disorders. The administration procedure is performed by a qualified neurosurgeon in centers specialized in stereotactic neurosurgery. KEBILIDI is authorized to be administered using the SmartFlow Neuro Cannula.

PTC is a global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to children and adults living with rare disorders. PTC’s ability to innovate to identify new therapies and to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines. PTC’s mission is to provide access to best-in-class treatments for patients who have little to no treatment options. PTC’s strategy is to leverage its strong scientific and clinical expertise and global commercial infrastructure to bring therapies to patients. PTC believes this allows it to maximize value for all its stakeholders. For more information, visit  www.ptcbio.com.