This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through the National Research Funding Call.
Duchenne muscular dystrophy (DMD) is the most common and most lethal form of muscle-wasting disease, affecting about 1 in 3,500 boys in the UK (and very rarely affecting girls). Children with DMD have a fault in their DNA that means they can’t produce the protein dystrophin, which is needed to build up muscles. The condition presents in early childhood, initially causing difficulties in standing up, climbing or running, which eventually progresses leaving most children in a wheelchair by the time they hit their teens. Sadly, most patients with DMD do not live past their early thirties.
With no known cure, research into correcting the faulty dystrophin gene offers hope to children affected by DMD.
Professor Giulio Cossu from the University of Manchester wants to develop ways to use a patient’s own stem cells, ‘correct’ the faulty gene, and re-introduce them back to the patient. His team have recently shown that stem cells from a healthy sibling donor can be safely injected in a patient with DMD. They now need to optimise each step of the transplantation procedure in the lab, to ensure that the corrected cells reach all the muscles they need to and work as best they can, before this can be trailed in patients with DMD.
Professor Giulio Cossu and his team will deliver corrected cells to mice through major arteries, targeting difficult to reach muscles essential for breathing and standing. They will monitor if the cells travel to other organs, how many cells survive and reproduce, whether they cause toxicity and how much dystrophin they produce.
This work is the crucial next step in getting all the information needed to start a subsequent trial with intent to cure DMD. In the future, this could offer hope of an effective treatment for these children for the first time – potentially helping to reduce the devastating effects of the disease and prolong their lives.
Towards the clinic: a study driving forwards stem cell therapies for duchenne muscular dystrophy
Researcher: Professor Giulio Cossu
Location: University of Manchester