RARE Daily

PTC Wins European Approval for AADC Gene Therapy

July 21, 2022

“Today’s approval from the European Commission for Upstaza for the treatment of AADC deficiency is momentous for patients, for PTC, as well as for the larger gene therapy community,” said Stuart Peltz, CEO of PTC Therapeutics. “Upstaza is the first and only approved disease-modifying treatment for patients living with AADC deficiency. We are ready to deliver this long-awaited treatment to patients as soon as possible.”

Photo: Stuart Peltz, CEO of PTC Therapeutics

The European Commission approved Upstaza for patients 18 months and older. The marketing authorization is applicable to all 27 European Union member states, as well as Iceland, Norway, and Liechtenstein.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a fatal 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 episodes of distressing seizure-like oculogyric crises that cause the eyes to roll up in the head, frequent vomiting, behavioral problems, and difficulty sleeping. The lives of affected children are severely impacted and shortened. Ongoing physical, occupational, and speech therapy, and interventions, including surgery, also are often required to manage potentially life-threatening complications such as infections, and severe feeding and breathing problems.

Upstaza is a one-time gene replacement therapy indicated for the treatment of patients aged 18 months and older with a clinical, molecular, and genetically confirmed diagnosis of aromatic L‑amino acid decarboxylase (AADC) deficiency with a severe phenotype. It is a recombinant adeno-associated virus serotype 2 (AAV2)-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.

During Upstaza clinical studies, patients went from not achieving any developmental motor milestones to demonstrating clinically meaningful motor skills from as early as three months following treatment, with transformational improvements shown to continue up to ten years after treatment. In addition, cognitive skills improved in all treated patients. Upstaza also reduced symptoms that cause potentially life-threatening and morbid complications.

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