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MND Testing - What is the MNDA Doing About It?

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    MND Testing - What is the MNDA Doing About It?

    The MNDA has had well over £250M in donations and Government funding since I have had MND. Why isn't the MNDA fast tracking the new MND test??
    Copyright Graham

    #2
    ??
    Copyright Graham

    Comment


      #3
      Dear Graham,

      In response to your email regarding the Neurofilament Light Chain (NFL) our research team have sent the following reply.

      NfL is not a diagnostic test for MND. All neurons contain NfL so the presence in cerebrospinal fluid or blood is a test of nerve damage. NfL levels rise across a range of neurodegenerative diseases, though it is often higher in MND.

      Note that NfL levels can increase following a bang on the head so, if someone has had a fall (which can, of course, occur with many conditions affecting the nerves or muscles) their NfL levels will be higher than normal, possibly for several weeks. This doesn’t mean they have MND. The diagnosis of MND is based on progressive clinical symptoms. NfL testing indicates nerve damage, which may help shorten the ‘differential diagnosis’ list of potential conditions but it is not a diagnostic test in it’s own right.

      One area where it is being used in a ‘quasi-diagnostic’ way is in the new ATLAS trial of tofersen in people who carry an inherited SOD1 gene mutation but are not showing symptoms. If NfL levels start to rise, it indicates that some nerve damage is occurring, even if symptoms are not present. It doesn’t mean that this an individual has MND but, as the participants in the trial are at a higher risk of developing MND due to their SOD1 mutation, it is a reasonable assumption that the NfL proteins are coming from damaged motor neurons. It is therefore being used as a key criterion for entry to the ATLAS trial.

      Find out more about the ATLAS trial on ClinicalTrials.gov

      Find out more about tofersen on the research blog

      NfL is more useful as a prognostic indicator – whether the progression is likely to be fast or slow. Generally, the higher the levels, the faster the disease progression. This is quite variable, however, so it is useful for studying large groups of people in clinical trials rather than on an individual basis.

      The other use of NfL testing that is being incorporated into trials is that is might indicate that a drug is protecting damaged nerve cells. If the levels of NfL drop, then it suggests that the nerve damage is being reduced. The VALOR trial of tofersen showed a lowering of NfL levels, which has encouraged the developer of the drug that it is having an effect on the ‘inside’ even If the results were not so convincing on the ‘outside’, as measured by ALSFRS-R.

      With regard to donations and government funding – the MND Association has partnered with the Government funding agencies on a number of projects, but we have never directly received any Government funding for research, apart from some recent money from a Government COVID support fund for early career researchers. The £50 million that the Government has committed to MND research in the coming years will go directly to the UK research community (i.e., hospitals and universities). It is not coming to the MND Association.

      I do hope this information is helpful Graham.

      Kind regards
      Forum Admin

      MND Connect
      Contact us on 0808 802 6262 or at [email protected]

      Comment


        #4
        Graeme I agree it’s torturous going through all these tests.

        Comment


          #5
          Thank you for your clarification, MND Connect.

          It would appear that there is no MND blood test?

          Are lumbar punctures also a poor diagnostic test for MND?

          (I remember in 2008, when I had my 3 lumbar punctures, having to go to bed for a week because the headache was so bad)
          Copyright Graham

          Comment


            #6
            Hi Graham

            Lumbar punctures are used to rule out other possible causes of symptoms. They are not a specific diagnostic test for MND and so are carried out infrequently.

            Best Wishes

            MND Connect
            MND Connect
            Contact us on 0808 802 6262 or at [email protected]

            Comment


              #7
              Originally posted by MNDConnect View Post
              Dear Graham,

              In response to your email regarding the Neurofilament Light Chain (NFL) our research team have sent the following reply.

              NfL is not a diagnostic test for MND. All neurons contain NfL so the presence in cerebrospinal fluid or blood is a test of nerve damage. NfL levels rise across a range of neurodegenerative diseases, though it is often higher in MND.

              Note that NfL levels can increase following a bang on the head so, if someone has had a fall (which can, of course, occur with many conditions affecting the nerves or muscles) their NfL levels will be higher than normal, possibly for several weeks. This doesn’t mean they have MND. The diagnosis of MND is based on progressive clinical symptoms. NfL testing indicates nerve damage, which may help shorten the ‘differential diagnosis’ list of potential conditions but it is not a diagnostic test in it’s own right.

              One area where it is being used in a ‘quasi-diagnostic’ way is in the new ATLAS trial of tofersen in people who carry an inherited SOD1 gene mutation but are not showing symptoms. If NfL levels start to rise, it indicates that some nerve damage is occurring, even if symptoms are not present. It doesn’t mean that this an individual has MND but, as the participants in the trial are at a higher risk of developing MND due to their SOD1 mutation, it is a reasonable assumption that the NfL proteins are coming from damaged motor neurons. It is therefore being used as a key criterion for entry to the ATLAS trial.

              Find out more about the ATLAS trial on ClinicalTrials.gov

              Find out more about tofersen on the research blog

              NfL is more useful as a prognostic indicator – whether the progression is likely to be fast or slow. Generally, the higher the levels, the faster the disease progression. This is quite variable, however, so it is useful for studying large groups of people in clinical trials rather than on an individual basis.

              The other use of NfL testing that is being incorporated into trials is that is might indicate that a drug is protecting damaged nerve cells. If the levels of NfL drop, then it suggests that the nerve damage is being reduced. The VALOR trial of tofersen showed a lowering of NfL levels, which has encouraged the developer of the drug that it is having an effect on the ‘inside’ even If the results were not so convincing on the ‘outside’, as measured by ALSFRS-R.

              With regard to donations and government funding – the MND Association has partnered with the Government funding agencies on a number of projects, but we have never directly received any Government funding for research, apart from some recent money from a Government COVID support fund for early career researchers. The £50 million that the Government has committed to MND research in the coming years will go directly to the UK research community (i.e., hospitals and universities). It is not coming to the MND Association.

              I do hope this information is helpful Graham.

              Kind regards
              Forum Admin
              Hi Admin,

              Thanks for posting this lengthy reply - it's very informative. I know I wasn't the OP, but if I may ask a question: do you know, and/or can you ask, whether there is any provision for people like myself (many symptoms of MND, but so far undiagnosed due to floppy neuros) to get access to the nfl blood test to facilitate a diagnosis? Relatedly, am I right in understanding that while the test is not specific to MND, a person who did have the disease would be very unlikely to have normal nfl levels and that it could therefore be useful in ruling out MND? One further question: if this is indeed the case, why isn't this being developed as a diagnostic tool (or is it?) since surely there is clinical utility, not to mention the value in putting many anxious twitchers at ease, in being able to point to a blood test and say 'MND is unlikely' or alternatively, 'it's a possibility'? Presumably, the strength of this test could be established quite quickly and at low cost by having neuros across the country take nfl readings of all their patients and therefore gaining knowledge of what percentage who went on to be diagnosed with MND had elevated levels early doors, what percentage had normal readings, and so on. Given I'm only a layman I would assume I'm missing something but this seems like low-hanging fruit, and I'd be curious to know if it's on the cards.

              Thanks again and best regards,

              Flex

              Comment


                #8
                Originally posted by FlexyWex101 View Post
                (many symptoms of MND, but so far undiagnosed due to floppy neuros)
                Re these "floppy neuros": is there any Neurologist whose opinion you would trust if he/she told you that an MND is not the reason for your symptoms?
                ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
                Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

                Comment


                  #9
                  To get the Nfl test you will likely need to see your Neurologist. Seeing how it would be used as a diagnostic tool, it is a part of ruling out other conditions. It would likely not be a blood test at this time because it is a research study so the trials would require a diagnosis. A gold standard does not apply to blood tests.

                  Since Nfl exists in motor, sensory, and autonomic neurons, it can only tell us that some or all of these neuro systems are being injured. It would be my guesstimate several types of neuropathy would also generate excess Nfl in the spinal fluid. Anyone with spine pathology would tend to have higher levels of Nfl in both the blood and spinal fluid. So the bottom line is that they can identify that something is being injured, but not where it is, including pathologies like MS, SMA, or Parkinson's.

                  Comment


                    #10
                    Even though I can only identify NS damage it is still better than what us currently on offer as diagnosis tools. They should allow patients to request it if they would like to. I'm trying to get the hospital to send my samples to Sweden so I will let everyone know how I get on.

                    Comment


                      #11
                      Originally posted by Ellie View Post
                      Re these "floppy neuros": is there any Neurologist whose opinion you would trust if he/she told you that an MND is not the reason for your symptoms?
                      Of course. Indeed, I think it is still possible, though unlikely, that I'm suffering from some kind of rare, progressive connective tissue disorder.

                      However, given the scale of my weakness, all the activities I can no longer do, the demonstrable wasting and other problems, I am afraid I do not trust any neuro who says it's not ALS (without identifying a really plausible alternative).

                      It's clear that the neurological exam neuros do is a pretty crude test that doesn't measure weakness accurately and misses several key muscles. You're not isolating particular muscles either. Compensation of strong muscles for weaker ones can occur. Add to this a whole bunch of biases, the fairly atypical nature of my progression etc., and you can see how neuros would (wrongly) overlook my case.

                      I know you probably see a lot of anxious twitchers and that there's an (understandable) tendency to be skeptical of young people worried they have ALS, since it's statistically very rare, but I can promise you: I am the outlier. And until neuros recognise and provide a really plausible explanation for my symptoms that is not ALS, I will continue to believe this.
                      ​​​

                      Comment


                        #12
                        Originally posted by Oliveroldc View Post
                        Even though I can only identify NS damage it is still better than what us currently on offer as diagnosis tools. They should allow patients to request it if they would like to. I'm trying to get the hospital to send my samples to Sweden so I will let everyone know how I get on.
                        Hi Oliver.
                        I've been trying to get samples sent to that Swedish lab too, but am having little luck. It seems most private clinics in the UK (Nuffield etc.) are unable to freeze blood samples, which is apparently required since it takes a while for them to make their way to the lab. If you do find a place that can sort this for you, please drop me a private message with the details, since I am very keen to have this test done. I don't expect it's faultless, but a high NFL reading would be a great weapon to prod neurologists into taking my case more seriously, while normal levels would be reassuring from a progression stand point.
                        Best,
                        Flex

                        Comment


                          #13
                          Originally posted by FlexyWex101 View Post
                          I can promise you: I am the outlier. And until neuros recognise and provide a really plausible explanation for my symptoms that is not ALS, I will continue to believe this.
                          ​​​
                          If that's what you believe, I guess you may as well have ALS, which is pretty sad.
                          ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
                          Eye gaze user - No functional limbs - No speech - Feeding tube - Overnight NIV.

                          Comment


                            #14
                            FlexyWex101 you don't need to freeze it. You just need it sent packed with dry ice. If you get it sent via fedx or DHL it would arrive in 3 days. They have special packs you can send them in. The issue I have is I need a doctor to sign the me
                            dical necessity form and because its research only marker then I am struggling to get this but will ping you once I hear back from the hospital

                            Comment


                              #15
                              Originally posted by Oliveroldc View Post
                              Even though I can only identify NS damage it is still better than what us currently on offer as diagnosis tools. They should allow patients to request it if they would like to. I'm trying to get the hospital to send my samples to Sweden so I will let everyone know how I get on.
                              I do not think it's the Dr's and certified professionals at issue as much as it is the lack of protocol for the insurance companies to pay for it. A gold standard is what they want, and NFL blood tests do not even approach detection (only ruling OUT other conditions) so they will refrain from approving payments to do blood tests. The insurance companies will, however, pay more $$ for spinal taps.

                              Comment

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