We'd like your feedback
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Miss
Georgia
Treneman-Evans
+44 117 4554503
Georgia.treneman-evans@bristol.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
Myalgic Encephalomyelitis or Chronic Fatigue Syndrome (ME/CFS)
This information is provided directly by researchers and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information.
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.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
You can take part if:
You may not be able to take part if:
Recovered or unable to provide informed consent
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Miss
Georgia
Treneman-Evans
+44 117 4554503
Georgia.treneman-evans@bristol.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
The study is sponsored by University of Bristol and funded by Sanofi.
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Or CPMS 54805
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
