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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.

Contact Information:

Mr Nicholas Christoforou
+44 117 4552354
n.christoforou@bristol.ac.uk


More information about this study, what is involved and how to take part can be found on the study website.

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Be Part of Research - Trial Details - How common is late-onset Pompe disease and limb girdle muscular dystrophy 2a in children and young people and adults treated for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): A cross-sectional study.
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How common is late-onset Pompe disease and limb girdle muscular dystrophy 2a in children and young people and adults treated for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): A cross-sectional study.

Not Recruiting

Open to: All Genders

Age: Mixed

Bristol Bath

Medical Conditions

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:

01 Sep 2022 31 Aug 2024

Participants are asked to complete one questionnaire and provide a saliva sample via an Oragene kit


Patients aged 8 - 70 years with ME/CFS who live in the UK.

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.

  • North Bristol NHS Trust
    Southmead Hospital Southmead Road Westbury-on-trym
    Bristol
    BS10 5NB
  • Royal United Hospitals Bath NHS Foundation Trust
    Combe Park
    Bath
    BA1 3NG

You may need to spend some time talking to a research nurse so we can understand if you are interested in the study. You will need to arrange a time to talk on the phone to a research nurse about the study. This will take about 45 minutes. If you take part, you will have to spend some time completing the online questionnaire and providing the saliva sample. The questionnaire will take you about 20 minutes to complete and the saliva sample will only take minutes to do. The main disadvantage is if you receive an unclear result from the genetic testing. If this happens, you might have Pompe disease or LGMD2A and you may be asked to provide another sample. Support from the research team will be given, and you will be offered a referral to a local genetic service in the NHS. You may also feel a bit worried whilst you wait for your result. However, support from the research team and Association for Glycogen Storage Disease-UK (a charity) and will be available to you if you need it. To remind you, the wait for results will be up to 6-months. However, there are benefits to taking part. The main benefit is finding out whether you have Pompe disease or LGMD2A and this will help you get the most effective type of treatment. You may learn something about how a research trial works. Some people with ME/CFS like to know that they are helping others with ME/CFS in the future

Mr Nicholas Christoforou
+44 117 4552354
n.christoforou@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.



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Read full details for Trial ID: ISRCTN12242529

Or CPMS 54805

Last updated 02 October 2024

This page is to help you find out about a research study and if you may be able to take part

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