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.
Therapy developed and delivered under-one-roof
The p47 gene therapy was also the first product to be researched, manufactured and delivered to patients ’under-one-roof’ at the Zayed Centre for Research into Rare Disease in Children, run jointly by UCL and GOSH.
In order to deliver the gene therapy to a patient, a viral vector is needed. This is a harmless virus that can be used to ’trick’ cells into accepting new genes. Viral vectors are highly complex to make, and their availability and effectiveness dictates whether a clinical trial of gene or cell therapy will work.
In 2023, GOSH received an MHRA licence to manufacture viral vectors in the Zayed Centre. and the UCL Technology Fund, managed by Albion VC in collaboration with UCL Business, funded the development of the vector, the preclinical testing, and the ongoing clinical trial.
Once the gene therapy had been manufactured, strict quality assurance checks had taken place, the treatment was handed over to the clinical trial delivery team who are responsible for administering the gene therapy to the patients enrolled in the trial.
The trial’s Principal Investigator, Professor Claire Booth, Mahboubian Professor in Gene Therapy at UCL Great Ormond Institute of Child Health and Consultant in Paediatric Immunology at GOSH, who led the clinical trial said:
"For the first time we’ve been able to develop, manufacture, and deliver a new gene therapy entirely under one roof - marking a true bench-to-bedside milestone.
"This is a significant step forward.It means that future gene therapies developed at UCL and GOSH could reach clinical trials, and patients with rare diseases like Remi, faster than ever before."
Early research into the feasibility of gene therapy for p47-CGD was funded by Wellcome and the CGD Society through support to Prof Thrasher and by children’s charity Action Medical Research to Prof Thrasher and Dr Santilli.
The Zayed Centre for Research into Rare Diseases in Children is fully funded by Great Ormond Street Hospital Charity (GOSH Charity), and was made possible by a £60 million gift in 2014 from Her Highness Sheikha Fatima bint Mubarak, wife of the late Sheikh Zayed bin Sultan Al Nahyan, the founding father of the United Arab Emirates.
Links
- Remi receiving his gene therapy infusion. Credit GOSH
Nick Hodgson
E: nick.hodgson@ucl.ac.uk
- University College London, Gower Street, London, WC1E 6BT (0) 20 7679 2000
