PTC Therapeutics’ Upstaza (eladocagene exuparvovec) has received authorisation from the Medicines and Healthcare Products Regulatory Agency (MHRA) in the UK.
Upstaza is the first approved disease-modifying treatment for aromatic L-amino acid decarboxylase (AADC) deficiency. It is also the first marketed gene therapy directly infused into the brain. The MHRA marketing authorisation is for treatment of patients 18 months and older.
AADC deficiency is a rare, fatal disorder that arrests motor development causing severe disability.
“We are thrilled with the MHRA’s rapid authorisation of Upstaza,” said Stuart W Peltz, Chief Executive Officer, PTC Therapeutics. “Patients in the UK with AADC deficiency are one step closer to having access to a much-needed disease modifying therapy.”
In clinical studies, patients demonstrated a mastery of clinically meaningful motor skills, including the ability to ambulate independently.
Milestone achievements including cognitive and language acquisition occurred from as early as three months following treatment, with improvements continuing up to ten years after treatment. Upstaza also reduced symptoms that cause potentially life-threatening and morbid complications.
“The approval of an AADC deficiency gene therapy in the UK will provide the opportunity to transform the prognosis for those born and living with this disease, and we are hopeful for access in the coming months,” stated Kirsty Hoyle, CEO, Metabolic Support UK.
“Without treatment, most children born with AADC deficiency will have difficulty with their development and many of the symptoms can be distressing and life-threatening. The impact on those living with AADC and their communities is significant, with children facing frequent hospitalisations, emergency visits and requiring a multi-disciplinary team of highly trained specialists.”