A three-year-old boy has amazed the medical community with his remarkable progress after becoming the first individual globally to undergo a revolutionary gene therapy for a severe condition. Oliver Chu has been diagnosed with Hunter syndrome, also known as MPSII, which leads to progressive physical and cognitive damage. In severe cases, this usually results in death before the age of 20 and is often likened to childhood dementia.
Before treatment, Oliver was unable to produce an enzyme essential for cellular health due to a faulty gene. Pioneering work by medical staff in Manchester utilized gene therapy to modify Oliver's cells, attempting to halt the debilitating disease. Prof Simon Jones, co-leading the trial, expressed his optimism, stating, "I've been waiting 20 years to see a boy like Ollie doing as well as he is, and it's just so exciting."
At the heart of this inspiring story are Oliver and his family from California, who placed their trust in the Royal Manchester Children's Hospital team. A year post-treatment, Oliver displays normal development. "Every time we talk about it I want to cry because it's just so amazing," Oliver's mother, Jingru, shared. The BBC chronicled Oliver's journey over the past year, detailing the development and initial funding struggles of this groundbreaking gene therapy.
The journey began in December 2024 at a clinical research facility in Manchester. Diagnosed in April with Hunter syndrome, Oliver's life, like his elder brother Skyler's—who also has the condition—revolved around hospital visits. Skyler showed delayed development, initially attributed to being born during the Covid pandemic. Ricky, Oliver's father, recounted the shock of his sons' diagnoses, warning others against searching the internet, which often presents worst-case scenarios.
Generally unnoticed at birth, symptoms in affected children arise around age two. These include physical changes, limb stiffness, and short stature, potentially leading to severe systemic and neurological issues. Hunter syndrome predominantly affects boys and is extraordinarily rare, affecting one in 100,000 male births worldwide. Previously, Elaprase was the only available medical treatment, costing approximately £300,000 per year per patient and only mitigating physical symptoms, not cognitive degeneration.
On a landmark day, Oliver underwent an initial step to halt his genetic disorder. Stem cells were extracted from his blood, to be modified in a lab and later re-introduced to his body. Dr. Claire Horgan, a consultant paediatric haematologist, explained the procedure, likening the blood filtration to a sophisticated machine collecting crucial stem cells for laboratory modification.
Oliver's cells are transported to a laboratory at Great Ormond Street Hospital (GOSH) in London for genetic tweaking. In Hunter syndrome, a genetic error causes missing cellular instructions...