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

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.

Sanofi are a pharmaceutical company.
https://www.bristol.ac.uk/academic-child-health/grants/

 

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.

 

Pompe's disease is glycogen storage disease type II
https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II

 

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.

 

Mm..., I used to use pharmaceutical money to do other things I was more interested in...

 

Well at least its not the state throwing away the money, although anything that fuels the Crawley-bus makes me sad

 

Given that NICE have trashed the evidence base for methods used by Crawley et al this could read as the first step in dissociation and a focus on " biomedical"

Reinvent and retain kudos.

 

The GEM Study: GEnetic Diseases in ME/CFS Patients.

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 - 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.

 

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.

 

Shouldn't the title be "Prevalence of two genetic diseases in ME/CFS patients"?

There are many genetic diseases, more than two of which can appear at times similar to ME/CFS. To me, at least, the title suggests all genetic diseases.

 

Why is Crawley doing biomedical research now? Is her view shifting? Is she unable to get funding for BPS?

 

From the project website. It reads as if they're only working with people currently having treatment at one of these centres, but I don't know for sure.

https://www.bristol.ac.uk/academic-child-health/research/research/genetics/gemstudy/

 

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.