Metabolic Support UK Nomination
We were nominated as a patient expert for the evaluation eladocagene exuparvovec for treating aromatic L-amino acid decarboxylase (AADC) deficiency during a National Institute for Health and Care Excellence committee meeting.
Our nomination was a result of our experience of aromatic L-amino acid decarboxylase deficiency and was submitted by Metabolic Support UK. We were honored to learn about being able to attend and playing a role in the possible approval of gene therapy for children in the UK.
Metabolic Support UK
Metabolic Support UK is a leading organization in the United Kingdom for Inherited Metabolic Disorders (IMDs). Their organization supports thousands of patients – even beyond their border. Despite being a large organization, they can provide individual support. We met them through their patient communities initiative. For the AADC deficiency community, this is a huge blessing due to our small size. They continue to advocate and empower all those living with an IMD.
Our daughter’s rare disease affects around 130 people worldwide. You can imagine the population in the UK can be easily forgotten. They reached out to expatriate parents who were not UK citizens.
Innovative Gene Therapy
We continue to learn and grow the more we become involved in supporting rare diseases. Learning about the history of gene therapy and specifically eladocagene exuparvovec, the more we realized how fortunate our daughter was able to participate in a clinical trial for this innovative gene therapy. It has motivated us to do what we can so every child that needs it can have this life-saving treatment.
After we attended this committee, Upstaza (eladocagene exuparvovec) received the European Medicines Agency (EMA) recommended approval to treat AADC deficiency in the European Union with this gene therapy. Later, the Medicines and Healthcare Products Regulatory Agency (MHRA) again granted approval for Upstaza in the U.K.
Upastaza is currently available for patients 18-months and older. We look forward to continued innovation which we hope brings the age lower or even offered in vitro. Robotic-assisted surgery is on the horizon, and with the approval of this drug, pharmaceutical companies will see a pathway for continuing to invest in more research.