PTC Therapeutics gets FDA nod for neuro gene therapy

PTC Therapeutics has achieved a significant milestone with the FDA’s accelerated approval of Kebilidi (eladocagene exuparvovec-tneq), a pioneering gene therapy designed for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. This marks the first time a gene therapy of this nature, that is directly administered to the brain, has received approval in the United States.

Kebilidi is intended for use in both children and adults suffering from AADC deficiency, a profound genetic disorder that disrupts dopamine production. Dopamine is a crucial neurotransmitter for motor function, and its deficiency leads to severe motor impairments and other serious complications.

The approval of Kebilidi is underpinned by data from ongoing clinical trials that have demonstrated both the safety and efficacy of the therapy. Patients who received Kebilidi showed marked improvements in dopamine production, which subsequently led to advancements in motor development milestones. The therapy is delivered via a minimally invasive neurosurgical procedure, which specifically targets the putamen, a part of the brain involved in motor control.

AADC deficiency is a rare and debilitating condition that dramatically affects patients' quality of life, often necessitating extensive supportive care. The disorder manifests through severe motor disabilities and can lead to life-threatening complications like respiratory problems and infections. Kebilidi aims to mitigate these issues by addressing the genetic root cause of the disease.

In addition to the approval, PTC Therapeutics has also been awarded a rare disease priority review voucher by the FDA. This voucher, which the company plans to monetize, is a significant achievement and underlines the importance of their work in developing treatments for rare diseases.

Overall, the accelerated approval of Kebilidi represents a landmark development in the treatment of AADC deficiency, offering new hope to patients and their families who have long awaited effective therapeutic options.