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    Gene silencing Work in the UK

    Dear MNDA,

    Given the recent success in treating Huntington's Disease and the breakthrough in delivering medication through the brain-blood barrier, is the MNDA aware of any work targeting the many known genetic causes of MND? I have had my whole genome sequenced for the purpose of the faulty gene being corrected.

    Graham
    Copyright Graham

    #2
    Dear Graham,

    The recently talked-about drug that showed promising results in people with Huntington’s Disease is indeed very encouraging and we hope that future trials will show that it has the ability totreat the disease effectively. The drug itself targets the faulty proteins that are created from the ‘faulty’ gene that people with Huntington’s have, and the last trial showed that this protein was significantly reduced in people taking the drug.

    Interestingly, a recent press release by the pharma company Biogen showed similar result in MND, specifically in people with a faulty SOD1 gene. This treatment, called tofersen, overcomes the blood-brain barrier by being injected directly into the spinal cord, and binding to a stretch of the gene which contains the mistake, preventing a faulty protein from being made. The early-stage trial showed a reduced number of this toxic protein in people who were receiving the drug and a bigger follow-up trial is now being rolled out to show the effectiveness of the drug in a larger number of people. It is hoped that other types of MND could also be targeted using this therapeutic mechanism (called antisenseoligonucleotide), and a clinical trial for people with a mistake in the C9ORF72 gene is now starting to recruit participants. You can read more about this study on our blog here: https://mndresearch.blog/2019/05/07/...ase-1-2-trial/

    If you have any follow-up questions you can contact [email protected] directly.
    Kind regards
    Ruth

    Comment


      #3
      Thanks Ruth. If the trial starts in the UK with people who have the C9ORF72 faulty gene please let me know how I can be included. Many thanks. Lynne
      ALS diagnosed November 2017, limb onset. For the 4 yrs previously I was losing my ballance.
      I'm staying positive and taking each day as it comes.

      Comment


        #4
        Hi Lynne,

        Antisense was one of the topics covered in Tuesday's ALS Unfiltered's webinar - it's not yet available to view back, I'll keep an eye on it for you.

        If you wanted to keep on top of when that particular trial may be recruiting in the UK, check the following site https://clinicaltrials.gov/ct2/resul...&Search=Search


        You can add in BIIB078, C9orf72 or Biogen as filters for that specific Antisense trial (BIIB078 is the drug's code name)
        Atm, it won't find any results for the UK, but here's the info, inc eligibility criteria, for the current US & Canada trial: https://clinicaltrials.gov/ct2/show/...lerosis&rank=1


        Take care.

        Love Ellie.
        ​Diagnosed 03/2007. Sporadic Definite ALS/MND Limb Onset.
        Eye gaze user - No working limbs - No speech - Feeding tube - Overnight NIV.

        Comment


          #5
          Hi Lynne

          A more general study into C9orf72, i.e. not a specific antisense drug trial, is recruiting in the UK now.

          I posted about it on April 6th. It’s the C9orf72 Cohort Study being led by Prof Kevin Talbot of the Nuffield Department of Clinical Neurosciences, University of Oxford. Three groups of people are being recruited: those with MND caused by a mutation of the gene, those with sporadic MND and no mutation, e.g. me, and healthy subjects.

          https://www.hra.nhs.uk/planning-and-...-cohort-study/

          The aim is to collect all sorts of neurological data and physical samples to try to understand the processes at work in this type of familial MND.

          The project has ethical approval for 300 participants. They would be happy with 100 or a minimum of 60. Currently they have about 20, I think.

          If you’re interested you could email Prof Talbot or the research coordinator at the JR, Lynn Ossher ([email protected]).
          It would be good if you were on the MND register beforehand.

          Doug

          Comment


            #6
            Hi all

            The plans to include UK centres in the C9ORF72 study are currently being put together and once we know more, we will publish this opportunity on our website: https://www.mndassociation.org/resea...t-in-research/

            Best Wishes

            Rachel

            Comment


              #7
              Thanks, Ellie, Doug and Rachel. Lynne
              ALS diagnosed November 2017, limb onset. For the 4 yrs previously I was losing my ballance.
              I'm staying positive and taking each day as it comes.

              Comment


                #8
                Originally posted by Doug Carpenter View Post
                Hi Lynne

                A more general study into C9orf72, i.e. not a specific antisense drug trial, is recruiting in the UK now.

                I posted about it on April 6th. It’s the C9orf72 Cohort Study being led by Prof Kevin Talbot of the Nuffield Department of Clinical Neurosciences, University of Oxford. Three groups of people are being recruited: those with MND caused by a mutation of the gene, those with sporadic MND and no mutation, e.g. me, and healthy subjects.

                https://www.hra.nhs.uk/planning-and-...-cohort-study/

                The aim is to collect all sorts of neurological data and physical samples to try to understand the processes at work in this type of familial MND.

                The project has ethical approval for 300 participants. They would be happy with 100 or a minimum of 60. Currently they have about 20, I think.

                If you’re interested you could email Prof Talbot or the research coordinator at the JR, Lynn Ossher ([email protected]).
                It would be good if you were on the MND register beforehand.

                Doug
                Hi Doug, thanks for the info, but I'm up North so no chance of me travelling to Oxford, Lynne
                ALS diagnosed November 2017, limb onset. For the 4 yrs previously I was losing my ballance.
                I'm staying positive and taking each day as it comes.

                Comment


                  #9
                  HI Ruth and Rachel,

                  Thank you for the prompt reply.

                  That is excellent news for the people with the C9orf72 gene fault in the Oxford catchment area that are fortunate enough to be able to enrol on the trial. This is the very best opportunity yet of beating this wicked disease.

                  My gene defect has not yet been identified, however there are UK scientists working on it I believe under the MINE project umbrella. My gene defect has links to a form of PD and PSP. I would be most grateful if you could advise on how my gene defect may be identified?

                  Graham
                  Copyright Graham

                  Comment


                    #10
                    Project MinE

                    If you’re unfamiliar with Project MinE (https://www.projectmine.com) this recent paper in EJHG gives a good overview. Unusually for Springer Nature, it’s open access so it’s easy to download the pdf.

                    https://www.nature.com/articles/s41431-018-0177-4

                    If nothing else, it highlights the huge scale of the problem scientists are facing in these whole genome sequencing projects. Needles in haystacks don’t come close!

                    Doug

                    Comment


                      #11
                      Hi Graham,

                      Apologies for the delay in responding to your query.

                      It is indeed great news to have another clinical trial tackling a specific gene variation in MND and we are looking forward to seeing whether the results will be as positive as we all hope.

                      Just to clarify, although the trial is already recruiting participants in the USA, it is still in the administrative stages in the UK and so we are not sure when and where the trial will take place. The study in Oxford recruiting people with the faulty C9ORF72 gene is a biomarker study rather than a clinical trial. If you would like to see an up to date list of clinical trials recruiting in the UK and worldwide, you can have a look at this page: https://www.mndassociation.org/resea...atment-trials/

                      Regarding your question as to how your gene defect can be identified, this is usually done by being referred to a genetic counsellor via your GP, who can then test you for specific genetic variations, especially if you have links to neurodegenerative diseases in your family. If you would like to know more, then please feel free to email our Research team at [email protected]

                      I do hope this is helpful.

                      Kindest regards,
                      Prachi

                      Comment


                        #12
                        Hi Prachi,

                        Thank you very much for the reply. This is all very encouraging.

                        I will indeed contact my GP to get in contact with a genetic counsellor again to see where we are up to at present. I was in fact enrolled on the 100,000 Genome Project and not the MinE Project. My mistake. I understand that the goals of the projects were similar and had access to powerful minds and technologies to progress results.

                        Kindest regards
                        Graham
                        Copyright Graham

                        Comment

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