HUNTER SYNDROME RESEARCH
Hunter syndrome is a rare and devastating genetic disease that often cuts children's lives tragically short.
Also known as mucopolysaccharidosis type II, this condition almost exclusively affects boys and is caused by a faulty or missing gene that leads to deficiency of an enzyme that is vital for breaking down sugars in the body.
Without this enzyme, waste sugar molecules build up in all the major organs, tissues and joints, causing a range of devastating problems. For children with the most severe form of this condition, they will also experience progressive learning difficulties and behavioural problems.
Right now, there is no cure for Hunter syndrome and treatments are extremely limited, especially those to combat the severe brain symptoms, but with your help we hope to change this.
At the University of Manchester, Professor Brian Bigger is carrying out a study to improve the effectiveness of an existing gene therapy in treating the neurological impact of this disease.
There is an urgent need to develop better treatments for boys with this devastating condition – especially those that can reach inside the brain.
Professor Bigger’s team have developed an innovative stem cell gene therapy that has already proven successful in alleviating other symptoms of Hunter syndrome.
The treatment delivers a correct copy of the faulty gene into the body. These cells then produce the missing enzyme that is crucial for breaking down sugars in the body. However, the blood-brain barrier which protects the brain, is currently preventing the enzyme from crossing into the brain efficiently.
To overcome this, the researchers are now investigating if they can boost the levels of the enzyme in the brain by adding on a 'protein tag' that helps it to cross the blood-brain-barrier.
If the results are positive, this treatment could prove fundamental in reducing or preventing the devastating neurological symptoms of this disease, and could lead to clinical trials in the near future.
If we can show this approach is both safe and effective, this laboratory research could help pave the way for a future clinical trial in boys with Hunter syndrome.
Our charity partner, LifeArc, has kindly pledged to fund half of this project cost. At Action, we are now fundraising for the remaining costs to help drive this research forward.
Will you support this vital research?
100% of your gift will support Professor Bigger's project that gives all important hope that lives could be saved in the future.