UK News

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that is often fatal. It can cause severe disabilities and suffering for the first few months of a patient’s life, and impacts all aspects of life: physical, mental and behavioural. Children with the disorder also often experience seizures, frequent vomiting, behavioural problems and difficulty sleeping.

Upstaza (eladocagene exuparvovec) has been granted authorisation by the Medicines and Healthcare Products Regulatory Agency (MHRA). It is the first and only approved disease-modifying treatment for AADC deficiency, as well as the first marketed gene therapy to be infused directly into the brain.

PTC Therapeutics’ Upstaza is a one-time gene replacement therapy to treat patients aged 18 months and older with a clinical, molecular and genetically confirmed case of AADC deficiency. The gene therapy intends to correct the underlying genetic defect, through the delivery of a functioning DDC gene directly into the brain, increasing the AADC enzyme, and restoring the production of dopamine.

Stuart W Peltz, PhD, CEO of PTC Therapeutics, commented: “We are thrilled with the MHRA’s rapid authorisation of Upstaza. Patients in the UK with AADC deficiency are one step closer to having access to a much-needed disease modifying therapy. This is another milestone towards our commitment to advance innovative treatments and improve outcomes for people living with rare diseases.”

Kirsty Hoyle, CEO of Metabolic Support UK, added: “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 the disease, and we are hopeful for access in the coming months. Without treatment, most children 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 multidisciplinary team of highly trained specialists.”