Girl, 3, becomes youngest patient to receive groundbreaking treatment
Three-year-old becomes youngest patient to receive groundbreaking gene therapy
- Three-year-old Gunreet Kaur became the youngest person in the UK to receive a groundbreaking gene therapy for a rare, life-threatening inherited condition.
- Gunreet, diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, received the Upstaza treatment in February 2024 at Great Ormond Street children’s hospital (GOSH).
- AADC deficiency is a rare and often deadly condition caused by a gene mutation that prevents the production of dopamine, leading to severe developmental and movement issues.
- The Gene therapy, eladocagene exuparvovec, involves delivering a working AADC gene directly into the brain to enable the production of the missing enzyme.
- Since receiving the treatment, Gunreet has made significant progress, including improved coordination, new movements, and vocalisation, with hopes for further development.