Royal Manchester Children’s Hospital patient ‘doing well’ after receiving world-first gene therapy treatment for life-limiting genetic condition
A child with a life-limiting condition, who was the first person in the world to receive a pioneering gene therapy, is ‘doing well’ almost 10 months on from treatment.
The Royal Manchester Children’s Hospital (RMCH) patient was two-years-old when he received the new investigational treatment for the genetic condition, Mucopolysaccharidosis IIIA (MPSIIIA), in January 2019.
MPSIIIA, also known as Sanfilippo syndrome, is a rare inherited disease caused by a genetic mutation and deficiency in the SGSH gene – meaning that the body’s ‘sulfamidase’ enzyme cannot break down complex sugar molecules properly. These molecules build up in cells within the brain and nervous system, and have a devastating and progressive impact on a child’s development.
The treatment performed at RMCH, which is part of Manchester University NHS Foundation Trust (MFT), makes use of lentiviral vector, gene-modified ‘autologous’ – i.e. the patient’s own – blood stem cells. These stem cells are manipulated ‘ex vivo’, or outside of the body, before being transplanted back into a patient.
RMCH’s Bone Marrow Transplant (BMT) Unit has pioneered transplants for children with similar metabolic diseases and enzyme deficiencies for many years, and is the largest transplant centre for metabolic diseases in Europe.
Professor Rob Wynn, Paediatric Haematologist at RMCH and BMT Programme Director, performed the gene therapy. He works closely with RMCH’s paediatric team, led by Dr Simon Jones, which cares for children with such enzyme deficiencies.
Professor Wynn also works closely with Professor Brian Bigger – who developed the gene therapy technology at The University of Manchester (UoM), supported by funding from Great Ormond Street Hospital Children’s Charity (GOSH Charity). The team also worked with other world-leading scientists, Professors Adrian Thrasher and Professor Bobby Gaspar, from the gene therapy team at the UCL Great Ormond Street Hospital (GOSH) Institute of Child Health (ICH). Professors Thrasher and Gaspar are also co-founders of Orchard Therapeutics, where Professor Gaspar serves as Chief Scientific Officer. Orchard Therapeutics holds the license and commercial rights to the MPSIIIA programme.
While the RMCH patient’s blood stem cells were removed in Manchester, the genetic manipulation of those cells to add in the SGSH gene was performed in Professor Thrasher’s specialist gene therapy labs at the UCL GOSH ICH. This was supported by funding from GOSH Charity to the gene therapy team and the National Institute for Health Research (NIHR) GOSH Biomedical Research Centre (BRC).
Professor Wynn said: “MPSIIIA affects each person differently – and its progress will be much faster in some individuals than in others – but symptoms often appear after children reach the age of one. As we were able to perform this treatment when the patient was two-years-old, the chances of it being effective were increased.
We are still at an early stage in the development of this treatment, but I’m pleased to say the patient is doing well.
“I would like to thank my colleagues at the Royal Manchester Children’s Hospital, as well as our partners at UoM, UCL, GOSH, GOSH Charity, NIHR GOSH BRC and Orchard Therapeutics, all of whom are integral in developing this pioneering investigational gene therapy.”
A clinical trial making use of the investigational therapy is due to open at the Royal Manchester Children’s Hospital before the end of the year. The trial is sponsored by UoM, and funded by Orchard Therapeutics.
Read more about the investigational gene therapy being pioneered at RMCH in our website news story published earlier this year.