NICE Metabolic Support UK

Patient Expert for NICE

After advocating and sharing a parents perspective to the EMA, Eladocagene exuparvovec (Upstaza™) gene therapy received approval EU. However, we continued our efforts and shared our parent’s perspective to the National Institute for Health and Care Excellence (NICE).

For gene therapy to be approved for a rare disease leads to future advancements and more medical innovation. Due to the prevalence of AADC deficiency, collecting data on the effectiveness is limited which is why it is important we share our caregivers voice to ensure all the data (quantitative and qualitative) are heard and understood.

The panel included decision makers and stakeholders. The goal was to “appraise the clinical and cost effectiveness of eladocagene exuparvovec within its marketing authorisation for treating aromatic L-amino acid decarboxylase deficiency.”

The panel had sought to understand the data and had great questions by the Department of Health and Social Care and NHS England. In addition, Metabolic Support UK played an instrumental role in helping us prepare and provide a framework in how we share data. A big thank you is deserved by Metabolic Support UK. Finally, the Royal College of Physicians were also in attendance.

Eladocagene exuparvovec (Upstaza™) is a gene therapy developed by PTC Therapeutics for the treatment of human aromatic L-amino acid decarboxylase (AADC) deficiency. Eladocagene exuparvovec comprises an adeno-associated virus vector that delivers the dopa decarboxylase (DDC) gene, the gene for human AADC. Eladocagene exuparvovec was approved in July 2022 in the EU 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 (i.e. patients who cannot sit, stand or walk).