GEM Study
Prevalence of genetic diseases in ME/CFS patients
How common are genetic diseases in children, young people and adults treated for Myalgic Encephalomyelitis / Chronic Fatigue Syndrome (ME/CFS)?
We are looking for individuals with a diagnosis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) to take part in a research study which will tell us whether late-onset Pompe disease or Limb Girdle Muscular Dystrophy 2A is found in children, young people and adults with ME/CFS.
Why are we doing this study?
Pompe disease (also named glycogen storage disease type II or acid maltase deficiency) is a rare genetic condition caused by a fault or spelling error in the GAA gene. It causes a harmful build-up of complex sugars in the body’s tissues. Limb Girdle Muscular Dystrophy 2A (LGMD2A) also known as Calpainopathy is also a genetic condition. LGMD2A is caused by faults or spelling errors in the Calpain-3 gene which gives instructions to produce a protein important to the muscle fibres.
Disabling fatigue is common in those with Pompe disease and LGMD2A and it impacts most of those with the condition. Many of the symptoms used to make a ME/CFS diagnosis overlap with the symptoms experienced by people with Pompe disease or LGMD2A. It is therefore possible that people with Pompe disease or LGMD2A may come to ME/CFS clinics with the main symptom of disabling fatigue. Informal reports suggest that some people with Pompe disease have been treated in ME/CFS clinics for many years before the correct diagnosis is made.
If people with Pompe disease or LGMD2A are currently being treated in ME/CFS clinics, we need to find a way to identify these people and offer effective treatment. We want to know if people with Pompe disease or LGMD2A are being treated for ME/CFS in either an adult or young person specialist ME/CFS clinic.
What should I do if I am interested in finding out more?
Please download one of our information leaflets and then contact the study manager Georgia on Georgia.Treneman-Evans@bristol.ac.uk