A pilot clinical trial for McArdles disease
In this project Dr Ros Quinlivan at University College London will lead an international clinical trial to test, for the first time, the safety and effectiveness of a drug for McArdles disease. Work carried out in animal models suggests the drug may have a beneficial effect for people with this condition.
Contents:
- What are the researchers aiming to do?
- How will the outcomes of the research benefit patients?
- Grant information
- Further information and links
What are the researchers aiming to do?
McArdles disease is a rare condition caused by the lack of a particular enzyme - called muscle glycogen phosphorylase - that helps to provide muscles with energy. This enzyme converts energy stored in the form of starch to sugar that the muscle can use as fuel during exercise. This lack of energy causes people with McArdles disease to experience severe muscle pain and fatigue. If they rest for a few minutes once the pain occurs, they can usually then continue to exercise without pain - this is called the "second wind". Exercising through the pain however, can cause severe muscle spasms and then damage. This damage causes muscle breakdown which can in some cases lead to kidney failure.
In the brain there is an enzyme similar to muscle glycogen phosphorylase called brain glycogen phosphorylase. The brain form of the enzyme has been seen in muscle fibres after they have been damaged, suggesting that it might be possible to "switch on" the brain enzyme in muscle to compensate for the missing muscle glycogen phosphorylase. Some drugs are known to have the ability to make the body "switch on" certain genes and when one of these was tested in an animal model of McArdles disease it was shown that the drug could switch on the brain enzyme in the muscle.
In this pilot study fifteen people with McArdles disease in the UK, Denmark and the USA will receive a pill every day for six months to gather the first evidence as to whether this drug improves the symptoms of the condition. Participants will be assessed three times over the course of the study and will include exercise tests, blood tests and quality of life measures.
How will the outcomes of the research benefit patients?
If the results of this pilot study are positive, this could lead to a larger placebo-controlled clinical trial to test this drug in more detail. This could potentially be a treatment for McArdles disease that has the ability to reduce or prevent the pain and fatigue that is brought on by exercising.
Grant information
Project leader: Dr Rosaline Quinlivan
Location: University College London
Conditions: McArdles disease
Duration: 2 years
Total project cost: £94,406
Official title: Pilot study of a potential treatment for McArdle disease
Further information and links
Find out more about McArdles disease
Read about Dr Quinlivan's other Muscular Dystrophy Campaign-funded grant
Read our FAQ about clinical trials
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