McArdle disease is a rare condition caused by the lack of a particular enzyme – called muscle glycogen phosphorylase. This enzyme converts energy, stored in the form of starch, to sugar that the muscle can use as fuel during exercise.
The lack of energy which the absence of this enzyme causes means that people with McArdle disease can experience severe muscle pain and fatigue. The condition can lead to lasting muscle damage over time, as well as other serious medical problems such as kidney failure, which require intensive medical care.
Funding high quality research
Muscular Dystrophy UK is seeking to fund a pilot clinical trial, to be conducted by Dr Ros Quinlivan at University College London, over two years from 2015. This pilot study involves two different clinical sites: London (headed by Dr Quinlivan) and Copenhagen (headed by Professor John Vissing).
This research holds great promise for a first potential treatment for McArdle disease. It will investigate substituting a different enzyme, brain glycogen phosphorylase, for the missing enzyme. Initial tests suggest this may be possible using a drug that is already being used in the clinic.
Support the Appeal
The cost of this trial is £94,406. Please help us reach our target by making a donation.
Find out more
For more information about the Appeal, contact our Development Team.