PTC Therapeutics has announced a milestone in the journey towards addressing Aromatic L-Amino Acid Decarboxylase (AADC) deficiency. The US Food and Drug Administration (FDA) has accepted the Biologics License Application (BLA) for Upstaza™ (eladocagene exuparvovec), a promising gene therapy designed to treat this rare genetic disorder.

The BLA acceptance comes with a Priority Review designation, highlighting the urgent need for therapeutic options for patients suffering from AADC deficiency. The target regulatory action date has been set for November 13, 2024, signaling a step forward in potentially providing an approved treatment option for affected individuals in the United States.

Matthew B. Klein, M.D., Chief Executive Officer of PTC Therapeutics, expressed excitement about the progress, stating, "We are excited to be one step closer to bringing an approved therapy to patients with AADC deficiency in the United States." He emphasized the transformative potential of Upstaza, which involves a highly innovative gene therapy directly infused into the brain.

Upstaza is a one-time gene replacement therapy specifically indicated for patients aged 18 months and older with clinically confirmed AADC deficiency. It utilizes a recombinant adeno-associated virus serotype 2 (AAV2)-based gene therapy, delivering the human DDC gene directly into the putamen to increase the AADC enzyme and restore dopamine production.

Clinical trials and compassionate use programs have demonstrated the efficacy and safety profile of Upstaza. Patients treated with Upstaza have shown significant neurological improvements, with initial insomnia, irritability, and dyskinesia being the most common side effects.

The administration of Upstaza involves a stereotactic surgical procedure, a minimally invasive neurosurgical technique used for various neurological disorders. This procedure is performed by qualified neurosurgeons in specialized centers for stereotactic neurosurgery.