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    • #21625
      Carol
      Participant

      In ALS news today there’s an article about research going on for neurofilament testing to assist in earlier diagnosis of ALS . Anyone familiar with this testing or how to go about having it done?

    • #21636
      Will
      Participant

      Hi Carol,

      Nice to meet you. From reading your posts, it seems like you’re in a similar boat to me: lots of worrying ALS-like signs with no other explanations offered and mimics ruled out, yet doctors say no ALS. While it’s obviously not the same as being 100% diagnosed, being in limbo, with ongoing, disruptive issues and the building fear (with very little information or support) is no fun. I hope you’re coping with this better than I am.

      On the neurofilaments, as it happens I’ve just had a discussion with two ALS specialists about this. Apparently, nfls as a biomarker is very much in its infancy. There is data that on average in people with ALS nfls in CFS fluid and in blood are elevated above normal, often starkly so. However, nearly all neurological conditions (so including things like Parkinsons and even head injuries) result in elevated nlf levels, which means as far as testing for ALS goes it’s non-specific. Arguably, it could be useful in suggesting ALS if the other neurological conditions had been ruled out, but even here there are some issues, mainly that although nfl levels are on average elevated beyond normal in ALS, there is a very wide spread. Some people – the minority, but a significant minority – have ALS but have nfl levels that are within normal range. So, if you’re looking to use nfls to definitively rule out ALS then that can’t be done. Slow progressors, which I’m going to assume that you are given you have yet to be diagnosed, are also apt to have lower nfls, which is another issue: the very fact that you (and I) are not showing *obvious* clinical signs means we’re likely in the group whose nfls will be low. I.e. we would get a false negative.

      To be clear, I’m not suggesting that nfls are useless – and that’s not what the specialists said to me – just that there’s still a way before they’re really ready to be used in clinics and even when they are they may not be as useful for diagnosing ALS as we hope. It seems most likely (and this is me talking here not the specialists) that nfls will end up being another weapon in the arsenal for helping to confirm ALS, after a clinical diagnosis has been made, rather than ruling it out.

      I’m afraid I’m unsure how to get nfl testing in the US. If you’re in Europe then providing you can find a clinic that will sign the forms and take and transport (this often requires freezing) your blood samples then Svar Life Science, in Sweden, offer analysis for 160 euros. See here: NfL (Neurofilament light protein) – serum/CSF (svarlifescience.com). You’re best bet would be to speak to a neuromuscular or better yet ALS specialist about this test, get their thoughts on its utility and then see if they will arrange for you to get it.

      Good luck, both for obtaining the tests and finding an answer to your medical problems more broadly,

      Will

    • #21644
      Amanda
      Keymaster

      Carol,
      I know that in the pre-fALS (pre-familial ALS) study that I volunteer for at the University of Miami they are using this test for one of their clinical trials. It is very exciting although research takes a long time before it makes its way into our world as a viable treatment. They have narrowed down candidates to specific mutations in the SOD1 gene that are associated with rapidly progressing ALS. Unfortunately, I was not admitted into the study because my mutation is associated with slow progression (Kind of good I guess). They are doing monthly lumbar punctures to measure the neurofilaments levels. When/if the candidates neurofilaments reach a certain level, then the participant will receive the treatment that they hope will prevent the onset of ALS symptoms. The article below describes it much better than I can. There have also been articles in ALS News Today about this study.
      As for using this as a test for diagnoses, that isn’t happening now as far as I know. Mainly because it is still being researched and isn’t covered by insurance. They are still working on identifying exactly what levels mean what to a patient. Many diseases have elevated neurofilament levels such as MS, Alzheimer Disease, Dementia with Lewy Bodies (DLB), Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Corticobasal Syndrome and Progressive Supranuclear Palsy (PSP), so I guess part of the research needed is to determine what level separates ALS from other diseases. Also, perhaps, the levels will some day be able to help doctors determine stages of ALS – or even when to administer treatments to prevent the onset like the clinical trials is targeting. That’s my hope!!

      https://physician-news.umiamihealth.org/miller-school-studies-pave-the-way-for-the-first-pre-symptomatic-als-trial-for-individuals-with-sod1-genetic-mutation/
      https://pubmed.ncbi.nlm.nih.gov/31432691/

      • This reply was modified 3 months, 1 week ago by Amanda.
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