PTC Therapeutics, Inc. says Upstaza (eladocagene exuparvovec) has been given marketing authorization by the European Commission.
Upstaza is the first approved disease-modifying treatment for aromatic L-amino acid decarboxylase (AADC) deficiency, and the first marketed gene therapy directly infused into the brain. It is approved for patients 18 months and older.
“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 W. Peltz, CEO of PTC Therapeutics.
“We are proud to bring this innovative therapy to the marketplace so that patients may benefit. 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.”
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.
“Before treatment, our daughter had not met any development milestones. She suffered from oculogyric crises that evolved into hours of pain, and we were told she would be bedridden for life,” said patient organization Teach RARE founder, Richard Poulin, whose daughter was treated as part of a clinical trial.
“After receiving Upstaza, she is now speaking, walking, running, and even riding horses. We’re thrilled with the EMA approval and the hope that this milestone brings to other children and families impacted by AADC deficiency.”
The marketing authorization is applicable to all 27 European Union member states, as well as Iceland, Norway and Liechtenstein.
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 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.
The efficacy and safety profile of Upstaza has been demonstrated across clinical trials and compassionate use programs. The first patient was dosed in 2010. In clinical trials, Upstaza demonstrated transformational neurological improvements. The most common side effects were initial insomnia, irritability and dyskinesia.
Administration of Upstaza occurs through a stereotactic surgical procedure, a minimally invasive neurosurgical procedure used for the treatment of some pediatric and adult neurological disorders. The Upstaza administration procedure is performed by a qualified neurosurgeon in centers specialized in stereotactic neurosurgery.
About aromatic L-amino acid decarboxylase deficiency
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: episodes of distressing seizure-like oculogyric crises causing 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, severe feeding and breathing problems.