A Perkins team led by Professor Nigel Laing AO has been awarded a Muscular Dystrophy Association (MDA) research grant to test two promising new treatments for McArdle disease.
McArdle disease is a rare, inherited condition that causes severe muscle pain and cramping. It occurs because an important enzyme required to break down energy stores in muscles is missing.
Professor Laing said his team will test two potential new treatments, using a cutting-edge technique known as gene therapy, which involves transplanting normal genes into cells that have missing or faulty genes.
“For the first treatment test, our team will deliver a normal version of the missing enzyme. This may cause an immune reaction because the body of a McArdle disease patient will not have been exposed to the enzyme before,” Professor Laing said.
“If this treatment enzyme triggers an immune response, it could lead to unwanted inflammation and the body might ultimately expel the enzyme as if it were a foreign body."
In a parallel set of experiments, an alternative version of the enzyme will be transplanted, which functions in a similar way to the missing enzyme.
The alternative enzyme is normally found in adult brain tissue and fetal skeletal muscle and is unlikely to provoke an immune response.
“Because the alternative version is so similar to the adult skeletal muscle enzyme, it may sufficiently restore enzyme function in McArdle disease muscle if we can increase it in enough quantities.”
If successful, the Team’s work could have major impacts for patients with McArdle disease, delivering new treatments to improve muscle function and reduce muscle damage.