The biggest ME/CFS study ever – will soon close its doors to participants.
DecodeME is the biggest, grandest ME/CFS study ever. It’s not just that it’s big (25,000 people) that makes it unique – it’s what it’s trying to do. DecodeME is a genome-wide association (GWAS) study that is looking for small changes in genes that may open the window to ME/CFS.
We’ve rarely had GWAS studies before for the simple fact that they have to be really large to be effective. The biggest one ME/CFS has had so far – a 2,500-person Scandanavian/UK study – was able to point the finger at some chromosomes but wasn’t able to pluck out any genetic risk loci because it wasn’t statistically powerful enough. The authors believed they would need 10xs more samples to actually get at the genes that are opening the door to ME/CFS. And here we are with DecodeME’s projected 25,000-person GWAS study. Nice!
What does GWAS do that other studies can’t? These huge studies allow researchers to zero in on genetic risk factors that can definitively point an arrow at the core aspects of a disease. Here’s what former NIH Director Francis Collins said about them.
“GWAS, or Genome-Wide Association Studies, are responsible for the deluge of discoveries in terms of the genetic risk factors for common disease that have been pouring out of research labs recently … if you’re successful … it allows you to zero in on a place in the genome that must be involved in disease risk.”
A recent review, “Benefits and limitations of genome-wide association studies”, concluded that GWAS studies have “successfully identified risk loci for a vast number of diseases and traits”.
GWAS Pluses and Minuses.
They’ve also often implicated “genes of unknown function or of previously unsuspected relevance”, which after further study, have uncovered “novel biological mechanisms”.
The DeCode ME Study
Without GWAS, you’re basically throwing darts at a million or so genetic polymorphisms in the human genome. With GWAS, you get answers. DecodeME didn’t mince words when they said that they’d chosen this approach because:
“significant differences between the DNA of people with ME/CFS and healthy controls must reflect biological causes of the illness.” and that they expected to find “dozens or hundreds of DNA differences that tilt the balance one way or another, changing someone’s risk of having ME/CFS.”
That’s exciting stuff! The DeCode ME study has the potential to get at core aspects of ME/CFS – aspects that have been eluding us for decades – in a way no other study can. We don’t know what DecodeME will find but we do know that GWAS studies play an essential role in understanding disease. Now that we finally have one – let’s make the best use of it.
Window Closing
DecodeME has the funding for 25,000 participants but right now has 20,000 participants. That’s a lot of people, but it’s still about 25% short of the magic 25,000-person number that one study projected that we need.
Actually, the study is not really at 20,000. Since 4,000 of the 20,000 genetic test kits that have been sent out had not been returned by the time Decode ME sent its recent letter out, DecodeME is actually at around 16,000 participants – almost 10,000 people shy of the magic number – with only a month and ten days to go.
The first request then is that people who have the spit kit mail, please mail it back. The second request is if you haven’t signed up, if you, or someone you know, are 16 or older, live in the UK, and have a diagnosis of ME/CFS, please participate in the study. All you have to do is to fill out a questionnaire (!) but you need to do so by 5 pm on November 15th.
From what I can tell, most people who fill out the questionnaire are also given a spit kit – you just spit and mail. Those kits must be back to DecodeME by January 31st.
So again, if you, or someone you know, are 16 or older, live in the UK, and have a diagnosis of ME/CFS, please join the Decode ME/CFS study here and help make history. The researchers have done their part in getting this $4 million study together. Now let’s do our part. Let’s have this study be as big, powerful, and insightful as possible. Our health could depend on it.
Please join the Decode ME/CFS study here.
I wish I could have participated but I have fought for 6 years for a diagnosis from my doctor and unfortunately like 90% of ME/CFS patients in the UK I have been unsuccessful. DecodeME knew that this would exclude the vast majority of patients and bias their data from the outset. I suspect its strongly responsible for its more female bias so far than every other study and it may have other consequences yet as it will exclude severe patients more. The full extent of that bias wont be clear until they release their demographics data and the difference it has compared to all the other studies from around the world.
Its a shame it played out this way and I am annoyed they badgered people for years when they knew those that had applied was very close to the theoretical maximum based on the known prevalence and diagnosis rate in the UK. They failed to hit their numbers despite Long Covid happening, mainly because that is even less frequently diagnosed. A Long Covid patient with ME/CFS both diagnosed from a UK Doctor is exceptionally rare.
I am so sorry you did not get a diagnosis of ME/cfs! fighting for so long…I live in Belgium so thought that the UK with nice guidelines would be better. Here still only cfs, GET and CBT, etc But 90% in the UK not getting diagnosed with ME/cfs, i really fall out of my bed!
I am sorry you could not take part of the studdy when you should have!!!
it gives me an insigh in how bad it is in the UK, ME/cfs, ME/cfs and long covid that one does not notice when until one lives there. especially with the nice guidelines i thught the UK is doing better!
here you can get the diagnosis of cfs way to fast because they do not rule out many other things and it is a psychosomatic, etc diagnosis, a garbadgebasket. And being female dooes not help.
i had my hopes on this study.. we will see…hope at least something good comes out of it for us..
Paul, I don’t know why you can’t get a diagnosis from your doctor but when I got ill with ME/CFS in the 90s, I found it so easy to get diagnosed. I hope you can get a diagnosis somewhere else maybe. My GP sent me to a private gastroenterologist to get my diagnosis.
Ach, I’m sorry…! While it makes sense from a scientific point of view to include only patients with confirmed diagnosis so for example no fatigue patients without PEM get mixed in, they could have done another group of patients self-diagnoses according to Canadian or International Consensus Criteria. Maybe let them know about the practical problem of finding a doc in the UK?
That is the ironic part. They require a doctors diagnosis based on whatever criteria and then they also require Canadian criteria for inclusion. So the questionaire is biased by doctor diagnosis but the end result for DNA is all Canadian criteria anyway.
When you consider most of the ME/CFS patients in the UK were diagnosed on Fukuda or Oxford criteria since the guidelines only changed end of 2021 it seems doubly pointless to require it. But clearly they seem some value in including people where a doctor has accepted they have fatigue.
UK people, please! I thought (to ill now) that someone wrote before they had broadened there criteria, so please ask again to participate if you where turned down.
Also if you have a while (can not remember how long and to ill to search) did not send your spittest in a certain amount of time back, you would get a new one. thought 3 weeks but totally not shure about the time!!! please inform you!
alse DecodeME wrote something about returning spittests with hollidayseason-postofice problems.
this study is our chance to get better!!!
only 16000 from 25000 ME/cfs sufferers is not enough!
please UK people, sread the word!!! for all of us…It is a once in a lifetime chance!!!
Cort, can you please put the phonenumber here? and e-mailadres?
https://www.decodeme.org.uk/
UK people, you can find everything on the link i put there. please help us worldwide and spread the word/link.
Sorry Cort, bit off topic, but what in your opinion would you say are the top 2-3 most likely explanations for ME /CFS? Probably my top two are neuroinflammation (Younger) and WASF3/ER stress
btw what has happened to Ron Davis’s research?
According to the ME Association, there has not been found any neuroinflammation in post mortems they have done. https://meassociation.org.uk/medical-matters/items/neuroinflammation-what-does-it-mean/
Actually it says there is some sign of neuroinflammation in the dorsal root ganglia
“These results, from a small number of cases, again indicate that neuroinflammation in the form of inflammation of the dorsal root ganglia (part of the peripheral nervous system)”
But no sign of encephalomyelitis
“There is, at present, no pathological or neuro-radiological evidence to indicate that people with ME/CFS have an encephalomyelitis”
Since then, Jarred Younger’s pilot study found widespread evidence of neuroinflammation – it needs to be validated, though.
Not Cort here, but my personal best prediction based on research of the last years is that it is probably a systemic cascade dysregulation disorder of the body, with a central (yet undiscovered) process that explains the key symptom of post-exertional malaise including the sometimes permanent deterioration after crashes as a common element in all patients regardless of their initial illness triggers (infections, operations etc.). That process explaining “the functionality noose slipping progressively tighter” in PEM/permanent deterioriation could be microglial regulation state as in Renz-Polster’s hypot
hesis paper, or it could be something else.
My best prediction is that ME/CFS is regulation/metabolic processes in the body getting “out of balance” in response to various kind of immune triggers or “overload situations” by all kinds of stressors including infections, and that while in some people (without ME/CFS) the system reaction remains flexible, in people with a predisposition for ME/CFS the system gets “stuck” in an new, sick regulation equlibrium possibly due to a central process causative for PEM.
An similar illness model is described in Renz-Polster’s microglia paper https://pubmed.ncbi.nlm.nih.gov/35614970/ (see for example the apple graph therein) which is my current best bet.
Microglial function also relates to neuroinflammation but not only, as explained in the paper.
Please U.K. people do this survey or complete it if you still have a spit test or not completed your questionnaire. It is not only important for us but for those coming behind us who are yet to get ill. We can help to find answers by doing as much as we can when we can and this is something that anyone can do.
This study has the potential to be a real game changer and break the BPS paradigm. If it shows definite genetic changes between ME patients and controls it finally WOULD PROVE THE BIOLOGICAL BASIS OF ME. Please, please take part of you can , it’s so important.
Why only UK? So many people in the US that could be part of this.
Why did they limit it to UK residents? If they had added US residents, they wouldn’t have had any difficulty making their number.
I have completed the DecodeME questionnaire this evening and submitted it. I am recovered though so I don’t know if they will use my DNA or not. If I can help them though, I will.
I’d love to participate but I’m in the US
Have tried to post a couple of times but my post doesn’t register. Just want to say please do this survey if you are in the U.K. It is so important, not just for us but for those coming behind us that have yet to get sick. It is really easy to do. Also if you have been sent a spit test and forgotten to do it or forgotten to complete the questionnaire please send it in before it is too late.
16,000 – 20,000 participants is already a large number. Although I don’t expect too much from this study. I have the feeling that this is not a random group of patients. chance of bias is high. With all those variations, I also doubt whether ME can be found in the genome. But who knows, maybe they will find different subgroups with a significant outcome in those variations.
Thanks for this Cort!
Quick sidebar – did you see the recently published Mayo Clinic Proceedings review of ME/CFS (October 2023)?
It was authored by 3 MDs from Mayo Clinic and Jaime Seltzer from #MEAcrion.
https://www.mayoclinicproceedings.org/article/S0025-6196(23)00402-0/fulltext
You may have already seen, but sharing if not. It has to be pretty heartening to see Mayo Clinic become, from the outside, a positive agent for change in this ME/CFS field, right?
Especially for those that have been in this ME advocacy area for a long time, I’m sure seeing Mayo affiliated with moving ME clinical care & knowledge forward has to be a welcome sight.
Are there plans for HealthRising to cover any of Mayo Clinic’s newfound resurgence into ME/CFS?
Thanks,
Dakota
Also quickly sharing from Jaime Seltzer, one of the co-authors from #MEAction.
https://twitter.com/exceedherg…/status/1711197702564856010
Per Jaime, “It’s in the top <1% most shared of all Mayo Clinic publications. It’s the most shared paper amongst its contemporaries at Mayo Clinic Proceedings. It’s in the top 0.2% most shared research products of all time. It’s been live less than a week."
Plus there’s a DecodeME webinar taking place on October 12:
https://us02web.zoom.us/webinar/register/WN_3ocFxyriSeat3R7J9Z48bA?utm_source=brevo&utm_campaign=New%20editor%20Webinar%20invite%20121023&utm_medium=email#/registration
“This webinar will be a chance to hear updates about the study’s progress and have your questions answered.
It’s on Thursday 12th October, 1:00pm (BST) on Zoom and Facebook Live.
There are only 500 spots to watch the webinar on Zoom for those who don’t have Facebook. But if you don’t manage to get one in time, don’t worry! You can also watch on Facebook live via our Facebook page, or watch the recording when it becomes available on our website.”
20 years of CFS. Saw Dr, Natleson at 14h St hospital NYC quite some time ago. I am getting really bad (can’t function on a daily basis) Willing to be part of any clinical trial..Pleease help or advise Thank you….
please help or advise