FDA accelerates approval for PTC's AADC deficiency gene therapy

The US Food and Drug Administration (FDA) has granted accelerated approval for PTC Therapeutics' KEBILIDI, marking a significant milestone as the first gene therapy in the United States administered directly to the brain. This therapy aims to meet the needs of both children and adults suffering from aromatic L-amino acid decarboxylase (AADC) deficiency, a genetic disorder that severely impairs motor functions by inhibiting dopamine synthesis.

The accelerated approval by the FDA is based on the safety and clinical efficacy observed in the ongoing global clinical trial, PTC-AADC-GT-002. KEBILIDI operates by replacing the defective gene responsible for the deficiency. It is delivered to the putamen region of the brain through a highly precise neurosurgical procedure. The clinical trials have demonstrated promising outcomes, with patients showing new dopamine synthesis and reaching significant motor development milestones.

As part of the biologics license application approval, PTC Therapeutics has also been awarded a rare disease priority review voucher, which the company plans to monetize. KEBILIDI employs a recombinant adeno-associated virus serotype 2 to deliver a functional DOPA decarboxylase gene directly into the brain. This process aims to increase AADC enzyme levels, thereby restoring dopamine production crucial for motor function.

Preparation for the launch of KEBILIDI is currently underway, with centers of excellence identified and surgeons trained to administer the therapy. PTC Therapeutics' CEO, Matthew Klein, expressed pride in the company's pioneering approach to treating severe neurological diseases. He emphasized the team's unwavering commitment to achieving this regulatory milestone and the anticipation of bringing this transformative therapy to patients in the US.

In addition to the developments surrounding KEBILIDI, PTC Therapeutics entered into a strategic financing partnership with Blackstone in October 2022. This partnership, valued at up to $1 billion, aims to support the development of PTC Therapeutics' product pipeline, further bolstering the company's efforts in advancing innovative therapies.

AADC deficiency is a genetic disorder that critically hampers motor function by blocking the synthesis of dopamine, an essential neurotransmitter. The introduction of KEBILIDI provides a new, vital treatment option for those affected by this debilitating condition, offering hope for significant improvements in their quality of life.

In summary, the approval and upcoming launch of KEBILIDI represent a groundbreaking advancement in the treatment of AADC deficiency. By addressing the root genetic cause of the disorder, PTC Therapeutics is set to offer a transformative therapy that holds the potential to greatly improve motor function and overall well-being for both children and adults affected by this rare genetic condition.