How near are we to a diagnostic biomarker? What is it likely to be?

Still no responses about the 'mysterious molecule' Davis and his team found in the serum of ME patients?

On the other place I mentioned Huntingtons Disease only because I came across it when searching on illnesses where there are problems with energy production (as opposed to ones that have 'fatigue' as a symptom).
"....defects in energy metabolism, particularly mitochondrial function, represent a common thread in studies of HD pathogenesis in humans and animal models".
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026743/

"HD is easily confirmed with genetic testing, says William Ondo, director of the movement disorders clinic at Houston Methodist Hospital. “It’s easy to diagnose. It’s a straightforward ‘yes or no’ gene. And if you carry that gene, it causes the subsequent development of the disease,” he says.

This simplicity led many researchers to hope that developing a cure for HD might also be a relatively straightforward process. But Albert La Spada, associate director of the Institute for Genomic Medicine at the University of California San Diego, says those hopes were soon dashed.

“It was a misjudgment. One gene does not always equal easy, unfortunately,” he says. “And we’ve learned to appreciate that this is a disease that involves this protein, huntingtin, that does lots of different things. And when the protein misfolds, it starts disrupting all manner of different pathways and processes in the brain. It turns out that a single gene defect is really quite complicated—and that’s made finding good treatments quite difficult.”

http://www.dana.org/News/Small_Interactions_Big_Effects/


But these findings have since been disputed:
https://huntingtonsdiseasenews.com/...-huntingtons-disease-may-be-normal-after-all/

I know HD has a genetic biomarker, but what if the elusive marker in ME is something similar to the huntingtin protein?
 
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I think the Seahorse technology that has a machine that measures things related to mitochondrial energy production and glycolysis at a cellular level looks promising. Their publicity material says it's designed for research not for diagnostic purposes, but if it consistently shows differences in ME patients cells from healthy cells, it could presumably be used for a well designed test.
https://www.agilent.com/en/solutions/cell-metabolism-(seahorse)
 
Sasha said:
Wouldn't it need to show differences between ME patients and other diseases, though? I'm not sure if those tests do.
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Not necessarily, it depends on your aims.

If your aim is to "cure" ME, then yes, as you'd need specificity.

If all you are after is a "treatment" then maybe not, it could just give an idea of what's going wrong, which could lead to "idea's" on how to treat symptoms more effectively.

...and finally, given most of the medical world disputes that we are even ill, another source of evidence, even if it's not specific and just shows that we are in fact very ill, couldn't hurt.
 
Sasha said:
I think it's very interesting - but I'm wondering how far we are from an ME-specific biomarker that distinguishes us from other diseases as well as from good health. :)
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That's a really good question. Though, as a first step, it would be great to have a blood test that gives me objective evidence that my doctor can understand and that proves to all around me that I have a biomedical malfunction, and it's not all in my head!
 
arewenearlythereyet said:
I'm not sure about a single biomarker, but I imagine that a number of markers could be used in conjunction to create a diagnostic profile. That both identifies the problem and the level of severity?
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Could be! :)

The question remains, though, how near are we even to a collection of biomarkers that are sufficiently sensitive and specific, and what are they likely to be?
 
Sasha said:
but I'm wondering how far we are from an ME-specific biomarker that distinguishes us from other diseases as well as from good health.
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The old WPI now known as NVCBR has been collaborating with Drs. Stephen Johnston and Phillip Stafford, at Arizona State University’s Biodesign Institute, Innovations in Medicine working on an antibody immune signature. Take a look at these links to get a better idea of what they are doing:

http://nvcbr.org/2017/02/28/nvcbr-researchers-close-in-on-a-diagnostic-test-for-mecfs-patients/

https://www.healthrising.org/blog/2017/03/21/immunosignature-biomarker-chronic-fatigue-syndrome/


Recently some patients took part in a study done by Arizona State University. The group at ASU have a break out company called Health Tell that could bring this to market relatively quickly once FDA approved.



ASU Immune sig.jpg ASU Immune sig.jpg
 
Ron said:
The old WPI now known as NVCBR has been collaborating with Drs. Stephen Johnston and Phillip Stafford, at Arizona State University’s Biodesign Institute, Innovations in Medicine working on an antibody immune signature.
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Thanks, @Ron. This one looks like it still has a way to go, though, and it's unclear which, out of so many research teams' potential biomarkers, are nearest to being the one(s).
 
Sasha said:
Could be! :)

The question remains, though, how near are we even to a collection of biomarkers that are sufficiently sensitive and specific, and what are they likely to be?
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I think we are a way off. Problem being is having a strong enough database of trst subjects who have correctly been identified with the disease and level of severity I guess.

I think we should at least use some of the basics like morning cortisol, combined with thyroid function and MMA/homocysteine and combine this with a CPET (where appropriate) and a tilt table test and possibly some of the inflammation markers? If we had at least a mild moderate and severe profile of these basic tests that would be a start. It probably wouldn't definitively diagnose but it would hopefully at least help elliminate other things during the diagnosis. Once MS was ruled out for me and my basic bloods came back fine my GP gave up. Subsequently found out my serum B12 folate was low and my morning cortisol (which I made him do) was also odd. He just didn't follow these up.

Problem in the uk is that they don't even use these basic tests in routine screening with the exception of thyroid. It doesn't seem beyond the wit of man to fast track some research to compile these into a guideline. It would at least give some basis for a biological diagnosis until the magic marker is found. Guidelines can be improved upon as new research reveals more information.

I suspect the one definitive marker may be a long time finding due to the multi systemic nature if the disease. Hopefully the bio bank can be used for some of this work?
 
I'd be surprised if there was a single diagnostic biomarker. It seems more likely that we're going to end up picking off different sub-groups over time.

If it looks like a biomarker is separating 'CFS' subjects from health controls, I tend to assume it's likely something secondary to the sort of ill-health that defines CFS. I don't really know what I'm talking about with a lot of this stuff, but I'd be pretty surprised if any of the available criteria had happened upon some singular disorder.
 
I vote that the first biomarker, to identify a subgroup, will originate from a simple genetic test. Over time, it will grow into more definitive testing, to better fine tune which appropriate treatments to prescribe.

If I was to predict a timeline, then up to one year to identify the simple genetic test, and 2-3 years for further fine tuning.
 
MErmaid said:
I vote that the first biomarker, to identify a subgroup, will originate from a simple genetic test.
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Is anyone doing that research?

Lots of groups are researching in various areas and every few months we seem to hear that one group or another has uncovered a potential biomarker, but we seem to have been hearing that for decades.

I'm wondering what research seems strong enough to indicate that a proper diagnostic biomarker is on the horizon.

I'm getting the impression that none of it is. :(
 
It seems unlikely to me that there will be a simple genetic test for ME. If it were a single gene genetic disorder there would be much clearer family history data and likely to have been found already.

I think the genetic factor, if there is one, is much more likely to be a complex genetic predisposition involving the interaction of several genes, and with different patterns for different sufferers. That's why when genetic studies are suggested for ME, huge numbers of patients are needed to enable subgroups and complex multigene patterns to be found.
 
Sasha said:
Is anyone doing that research?

Lots of groups are researching in various areas and every few months we seem to hear that one group or another has uncovered a potential biomarker, but we seem to have been hearing that for decades.

I'm wondering what research seems strong enough to indicate that a proper diagnostic biomarker is on the horizon.


I'm getting the impression that none of it is. :(
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Guess we will have to wait 12 months to see if my prediction is correct ;)

Social media has its place, but may not be the vehicle used by everyone in the world that has ME knowledge.
 
Trish said:
It seems unlikely to me that there will be a simple genetic test for ME. If it were a single gene genetic disorder there would be much clearer family history data and likely to have been found already.

I think the genetic factor, if there is one, is much more likely to be a complex genetic predisposition involving the interaction of several genes, and with different patterns for different sufferers. That's why when genetic studies are suggested for ME, huge numbers of patients are needed to enable subgroups and complex multigene patterns to be found.
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I disagree, and I said a subset of PwME. And yes, it’s a start and further refinements may take a few more years to be more precise.
 
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