GEM Study: Prevalence of genetic diseases in ME/CFS patients
Research type
Research Study
Full title
How common is late onset Pompe disease and/or LGMD2A in children and young people and adults treated for Myalgic Encephalomyelitis / Chronic Fatigue Syndrome (ME/CFS): A cross-sectional study.
IRAS ID
313068
Contact name
Georgia Treneman-Evans
Contact email
Sponsor organisation
Research Governance Team, University of Bristol
Clinicaltrials.gov Identifier
NA, NA
Duration of Study in the UK
1 years, 9 months, 14 days
Research summary
Myalgic Encephalomyelitis or Chronic Fatigue Syndrome (ME/CFS) is relatively common in adults and children and young people (CYP). To receive a diagnosis, CYP and adults must have: debilitating fatigue made worse by activity, worsening symptoms after activity, and sleep problems. Those with ME/CFS are disabled and use significant health care resources over a considerable period prior to accessing ME/CFS treatment.
Pompe disease (also named glycogen storage disease type II, acid maltase deficiency, OMIM #232300) is a rare metabolic myopathy caused by a deficiency of alpha-glucosidase. This results in the intra-lysosomal accumulation of glycogen. Fatigue is common in those with late-onset Pompe disease. It affects over 66% of those with the condition and is the presenting symptom in 25% of patients.
Limb girdle muscular dystrophy 2A (LGMD2A) also known as Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophy. It is caused by mutations in the calpain 3 gene which gives instructions to produce a protein important to the muscle fibres. The age of onset of muscle weakness is extremely variable; the most common being between 8 and 15 years. Common symptoms include fatigue.
Many of the symptoms used to make a clinical diagnosis for ME/CFS overlap with the symptoms experienced by patients with Pompe disease or LGMD2A. Anecdotal reports suggest that some patients with Pompe disease have been treated in ME/CFS clinics for many years before the correct diagnosis is made. These patients are unlikely to get better with ME/CFS treatment approaches. A diagnosis of Pompe disease is important as it enables access to treatment that improves quality of life and life expectancy. A diagnosis of LFMD2A also enables patients to access appropriate supportive treatment.
REC name
London - Bloomsbury Research Ethics Committee
REC reference
22/LO/0395
Date of REC Opinion
28 Jul 2022
REC opinion
Further Information Favourable Opinion