The parents of a three-year-old boy born with a devastating genetic condition say they are now excited for his future after he received a revolutionary stem cell gene therapy developed by researchers in Manchester.
In February, Oliver (Ollie) Chu was treated for Hunter syndrome as part of a clinical study at Royal Manchester Children’s Hospital, in collaboration with the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital – both part of Manchester University NHS Foundation Trust. The trial is managed and sponsored by The University of Manchester.
Ollie was diagnosed with Hunter Syndrome after his five-year-old brother was also found to have the condition. Ollie’s family, including his brother Skyler, travelled to the UK from California to take part in the research.
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare inherited condition caused by an error in a gene that prevents the production of an enzyme needed to break down complex sugars. Without this enzyme, sugars build up in organs and tissues, leading to joint stiffness, hearing loss, breathing and heart problems, developmental delays, and cognitive decline. Life expectancy is typically 10–20 years.
Currently, the only licensed treatment is Elaprase, a weekly enzyme replacement therapy costing around £375,000 per patient per year. While Elaprase can reduce mobility and organ problems, it cannot prevent mental decline.
The Manchester-led study is investigating a one-off gene therapy that involves:
- Removing the child’s stem cells
- Replacing the faulty gene
- Re-injecting the modified cells into the patient
Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at the Manchester Centre for Genomic Medicines, commented:
“I have worked in researching treatments for children with rare genetic diseases for over twenty years and I have sadly seen many children lose their lives to these devastating conditions. This is a truly exciting development which could lead the way for treating similar genetic conditions and bring hope to other families.”
Ollie’s parents say the treatment has given them hope for a brighter future, marking a major milestone in the fight against rare genetic diseases. His father, Ricky, said:
“Although it was a big commitment to travel to the UK, of course we want the best for our children, so when this opportunity came up in Manchester, we discussed it as a family. Due to Skyler’s age, he was not eligible to take part in the Manchester trial and is taking part in a different study in the United States. That has meant splitting up the family, but it was something we were willing to do for Ollie to have the opportunity to be in this trial.
“There are very few times where your child can have a reset on life so if you can give them that chance, then it’s just something you do.
“Ollie is doing great since having the gene therapy. We have seen dramatic improvements, and he continues to grow physically and cognitively. Our hope for Ollie because of this treatment is that he will continue to make his own enzymes and live a normal life without infusions.
“We’re excited for Ollie’s future. Seeing the difference for Ollie pre-and post-transplant has made us believers.
“We will be forever grateful to the entire research team for allowing us to be part of this research. I’ve been a huge advocate of this trial.
"We think it’s wonderful that there is research being done on rare conditions. Our priority is our children but knowing that this could result in helping other children around the world is very meaningful for us. We hope that one day, a treatment becomes available for all children at all stages of Hunter syndrome.”
Image credit: iStock
