A teenager with a rare, life-limiting genetic condition is off to university after receiving a pioneering gene therapy developed by researchers at UCL and Great Ormond Street Hospital for Children (GOSH).
Remi, 19, received the treatment as part of a world-first trial at GOSH for the condition p47 Chronic Granulomatous Disease (CGD) which leaves patients vulnerable to severe infection and inflammation.
The new gene therapy was developed by a team at UCL Great Ormond Street Institute of Child Health, led by Professor Adrian Thrasher and Dr Georgia Santilli.
Remi was the first patient to receive this gene therapy in 2024 and the trial will treat five patients in total.
p47 CGD is an inherited genetic immunodeficiency disorder that affects about one in a million people. People with this condition have immune systems that do not function properly, leaving them susceptible to inflammation and frequent bacterial and fungal infections.
CGD can lead to severe life limiting conditions such as colitis, inflammatory bowel disease and inflammatory complications and in some cases can be life threatening due to the risk of severe infections. The current treatment option is a bone marrow transplant, but finding a matched donor is challenging. Previous trials into gene therapy for a different form of CGD called X-CGD have been successful, but there had been no trials for p47 CGD.
Remi was diagnosed with CGD in 2007 and had been waiting for a bone marrow transplant match when he found out about this trial.
"Before the trial I became really unwell and was struggling with my weight due to inflammation in my gut. I had been missing a lot of school, and even when doing online studies it was hard to focus when I was at hospital," he said.
"Having the gene therapy has completely changed my life. I can go out and about now without worrying, help my family out and I'm excited to start university and start the next stage of my life.
In the year since receiving the treatment, Remi has passed his driving test and finished his A-levels, which he previously had to put on hold. He has now secured a place at university to study law.
