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.

IN FULL

Girl, 3, becomes youngest patient to receive groundbreaking treatment