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Faulty genes
Hi I was diagnosed with als in may 2024 although I think l have had it coming on for a couple of years previously. I have had my genome done and I have a faulty gene ATXN2, has anyone else got this ? Is there any treatment that may be available?
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4 Replies
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We invite you to connect with our Genetic ALS community where people with many of the genes are represented. Look for End The Legacy or email me [email protected]. Also find us on FB: Genetic ALS or Familial ALS. You are not alone!
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Hi, I was finally diagnosed last July after 2.5 years of symptoms. My first genetic test in April of 2022 was all negative but we did another one this past February and the ATXN2 mutation came back positive for intermediate repeats of CAG (32). No one in my family history has had als. Biogen, who produced Toferson for the SOD1 gene mutation was working on clinical trials for knocking down the ATXN2 protein but despite positive results in mouse models there was no success with people. They ended it in 2022 I believe. I tried emailing the company but no response. How are you doing? I’m going back to clinic next week and plan to discuss with my Neurologist.
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Hi, Have you checked this site for other trials that are open right now? There are many other resources here as well. https://www.iamals.org/resources/als-signal-clinical-research-dashboard/
iamals.org
ALS Signal - A Tool to Explore Clinical Trials and Treatments
ALS Signal is a dashboard designed for and by those living with and impacted by ALS. Learn more about clinical trials and gain access to experimental treatments
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Hi and best regards from Switzerland, I attended the BIOGEN study, BIIB105 in the Netherlands at the UMC, Utrecht for 1.5 years. This study was stopped in April 2024 as the ASO did not show any positiv results. I am a ATXN2 31/29 carrier and at the UMC they told me, that the have out of a dadabase of over 10’000 ALS persons (ProjectMine – https://projectmine.com/), 10 with the ATXN2 31/29 gen repeat mutations, and that all show a ALS. I expect a publication on this subject within the next monthes, as a everage living span was indicated with 7.5 years after diagnose.
projectmine.com
To understand the genetic basis of ALS and to ultimately find a cure for this devastating, fatal neuromuscular disease, Project MinE aims to analyse the DNA of at least 15,000 ALS patients and 7,500 controls. The resulting 22,500 DNA profiles … Continue reading
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