Open GEM study - Prevalence of genetic diseases in ME/CFS patients, 2022, Esther Crawley, Bristol University

Sly Saint

Sly Saint

Senior Member (Voting Rights)
A thread on the announcement of funding for the study has been merged with the announcement of the study


I haven't searched for more details on this yet.

Esther Crawley: Sanofi: Exploring the prevalence of Pompe’s disease in patients diagnosed with CFS/ME: £550,000
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Sanofi are a pharmaceutical company.
https://www.bristol.ac.uk/academic-child-health/grants/
 
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In Q4 2020, the FDA and the EMA (EU equivalent of FDA) accepted Sanofi's submissions for regulatory approval for its new drug for Pompe's disease, avalglucosidase alpha, both on a fast track program.

For reference, the current and only available treatment for Pompe's disease is alglucosidase alfa, branded under Myozyme and Lumizyme. They respectively cost $300,000/year and $630,000/year, so that apparently places them among the most expensive treatments in the world.

Manufacturing costs aside, if Sanofi identify 1 or 2 patient(s) from this study, they'll cover the cost of the grant! No wonder they have an interest in ME/CFS.
 
This looks very odd. Pompe disease is a genetic disorder that can present in young adults or teens with arm and leg weakness. As far as I know it does not produce symptoms like ME although a really inattentive physician might confuse weakness with fatigue.

I guess the justification would be that a few adolescents diagnosed with ME might have been so poorly assessed that they actually had this problem. The prevalence should be about 25 people per million, so that would be probably less than one a year presenting in the Bristol area? So a very significant percentage would need to be misdiagnosed with ME for the service to pick one up.
 
I cant think of any valid reason for this study. Unless of course I was the researcher getting just over half a million to complete it......
Ive met two people with Pompe’s disease in my old working life - symptoms nothing like ME in my (admittedly not very knowledgeable) opinion.
 
I guess if Crawley is doing this, she has less time to be promoting the Lightning Process or other some other 'think yourself well' scheme. If she's using a pharmaceutical company's funds, she isn't using up government research funds. And there's an outside chance that some child with an ME/CFS diagnosis might actually be found and helped.

Sounds like a win all round.
 
The GEM Study: 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

‌
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GEM Study | Centre for Academic Child Health | University of Bristol

see also this thread
Exploring the prevalence of Pompe’s disease in patients diagnosed with CFS/ME, 2021, Crawley | Science for ME (s4me.info)
 
pdf patient information
GEM PIL ADULT.pdf (bristol.ac.uk)

HRA
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
    Esther Crawley

  • Contact email
    esther.crawley@bristol.ac.uk

  • 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
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  • 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
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GEM Study: Prevalence of genetic diseases in ME/CFS patients - Health Research Authority (hra.nhs.uk)
 
"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."

because? Very basic tests completed at onset; no further testing once diagnosis of cfs is made.
And whose fault is that.
 
Whilst Esther Crawley's name has a habit of inducing a tic, is this not useful to pwME in some respects?

It would be interesting to know if there is a significant level of misdiagnosis of rare diseases, and the study could offer an insight. If cases of Pompe's disease or LGMD2A are being missed, it's reasonable to wonder whether others are too.

One of the issues is that patients tend to look up their symptoms before they consult a GP, and if they find something that appears to match well they may emphasise or privilege certain symptoms. Doctors should be able to ask the right questions to circumvent this, but the lamentable level of training they receive on ME (if any at all) means misdiagnosis is a risk. And ME is probably much more common/likely than some of these genetic diseases.
 
Kitty said:
It would be interesting to know if there is a significant level of misdiagnosis of rare diseases
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In my opinion this is very likely. Individual rare diseases are rare, but there are so many of them that the overall prevalence of illneses in this category is not so low. A portion of them can manifest at the typical age of onset of ME/CFS, and have similar symptoms, and even appear after stressors like infections.

The adolescent/adult onset forms tend to be milder and are harder to diagnose correctly, and may progress slowly which can mean that patients get initially diagnosed with ME/CFS.

I'm not saying that we all need to have testing for rare diseases, just that it's something to consider in some situations. There are specific signs that would suggest certain genetic disorders, and also unspecific signs but I'm not an expert.
 
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RedFox said:
Why is Crawley doing biomedical research now? Is her view shifting? Is she unable to get funding for BPS?
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The study is funded by Sanofi.

Maybe one day, companies like Sanofi will decide helping patients with ME is as lucrative as helping patients who have been misdiagnosed with ME. But first we have to undo all the harm done by bogus and flawed "research" into quackery.
 
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