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  • What do you think about Gene Therapy?

    Posted by Amanda on August 3, 2023 at 1:01 am
    On July 12th I started QALSody/Tofersen treatments. I just finished treatment number 2 today.

    Tofersen/QALSody is the first treatment that is designed to target a mutated gene that is responsible for approximately 1-2% of ALS cases. 

    The scientific explanation for how QALSody stops or prevents ALS in people with a SOD1 mutation is, Qalsody is an RNA-based therapy designed to prevent the toxic SOD1 protein from being made. It works by binding to and promoting the degradation of SOD1 mRNA molecules, which are the intermediate molecules produced from the gene that are used as a template for protein production.” 

     “Tofersen (BIIB067) is an antisense oligonucleotide (ASO) that facilitates the degradation of SOD1 messenger RNA to diminish SOD1 protein production.” In some cases, they have seen people in the clinical trials actually gain some things back! 

    (https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/tofersen

    This is a huge step in the right direction for finding treatments for ALS. They are researching treatments for other mutations. They have also identified mutations, including the SOD1 gene, in many cases of sporadic ALS. 

    What are your thoughts on this treatment and research? 

    If you are interested in knowing more about my ongoing treatments and how it is affecting my ALS, just let me know and I’d be happy to share. 

    Corrected and noted source

    Amanda replied 8 months ago 7 Members · 11 Replies
  • 11 Replies
  • bakereld

    Member
    August 3, 2023 at 2:22 pm

    I’d love it but have c9 defect

  • len-jax

    Member
    August 3, 2023 at 4:29 pm

    Hi Amanda,

    That is excellent news, mainly because the gene can produce the SOD1 proteins correctly! And the reports of pALS gaining function are fantastic! It certainly provides hope that it may yield avenues to treatment and cures for all the other variants of ALS.

    You were diagnosed recently after being in Limbo for years based on your gene markers and family history. Might I ask what your diagnosis was based on: a test, loss of function, symptoms, or a combination of all of the above? I would understand if you choose not to discuss that here.

    Thanks for sharing your journey!

    Len

  • alan-larrivee

    Member
    August 3, 2023 at 5:56 pm

    Sounds great Amanda

    what are your initial impressions? Do find any benefits?

    I believe RNA therapy is the best news in a while. Once they figure it out for on mutation the others will be easier.

    Good luck to you and all my best wishes!

  • prabhuraj-gaddikeri

    Member
    August 4, 2023 at 5:54 am

    Is it possible to treat sporadic als with Toferseon , if not any other gene therapy/ medicines in line to treat sp als

  • prabhuraj-gaddikeri

    Member
    August 4, 2023 at 6:02 am

    Congratulations Amanda wish you complete recovery and permanent reversal from this dreaded disease.

  • giuseppe-sarno

    Member
    August 4, 2023 at 8:47 am

    I am happy for those ~300 Patients.

  • therese-stickler

    Member
    August 4, 2023 at 8:48 am

    Amanda, did you have your neurofilament level measured before you started tofersen injections and if yes, was it elevated or within normal limits?

    • Amanda

      Member
      August 4, 2023 at 9:53 am

      @Therese,

       

      Yes, i’ve had the NFLC checked through lumbar punctures and blood work for several years through the Pre-fALS study.   Since the onset diagnosis, I’ve had it checked in December and in July, the day I started Tofersen.  I think they are doing lab work with each treatment but I’ m not sure yet.  I just spoke to Frontiers Pharmacy and my dosage is 100 mg.  It sounds like the strength will stay the same but the amount I’ll get will increase.

      I’m very interested in biology and science (I’m sure we all are regarding our ALS) so I check my lab work, medical notes and read research on everything!

      They are currently working on a similar treatment for the c9 mutation. I’m not sure where they are in the process.

  • tamkin6094

    Member
    August 4, 2023 at 8:49 am

    Hi Amanda I’ve been getting Tofersen since 8/2019. I started in the trial and am positive I got the real stuff, because I could actually feel the difference right away! Yes I’ve progressed but it’s been extremely slow. I wonder if the dose was increased if it would help with that? Anyway it’s a Godsend for all of us with SOD1! By the way my brother also has it. He isn’t on Tofersen yet. I hope it’s soon though!

  • sandyrob

    Member
    August 4, 2023 at 11:07 am

    Other than this thread, is there a Zoom support group for SOD1 pALS and caregivers?  My husband is positive for SOD1.  He is the only person in his family as far as we know.  His sons are reluctant to get tested.  We all need more information.

    • Amanda

      Member
      August 7, 2023 at 9:02 am

      @Sandy,

      I’m not sure about Zoom meetings; but I am in a SOD1 group of facebook.  I just joined recently so I am not sure what is available.  They may have resources or more information in that group. Just search ALS genetic and ALS SOD1 to find the groups.

  • david-shuey

    Member
    August 8, 2023 at 2:35 pm

    “Simply put, the drug wraps itself around the mutated gene and fills in the miscoded instructions.  The gene then is able to produce the SOD1 proteins correctly.” – Amanda

    This is not likely what’s happening here. These drugs are known as ASO’s (anti-sense oligonucleotides). As the name implies, they small strands of nucleotides with essentially the complimentary sequence to the mRNA. They form a duplex RNA hybrid that is digested by cellular nucleases, thus repressing SOD1 expression.

    So why do you want to inhibit mutant SOD1 gene expression? It is thought that the mutant forms of SOD1 actually self assemble to form neurotoxic protein aggregates. Such proteinopathies, as they are known, are found in many neurodegenerative diseases.

    Hope this helps … Dave

  • frances-goodman

    Member
    August 10, 2023 at 5:18 pm

    My brother is going very quickly from ALS.  I fear there is not much time left.  How can we get his DNA analyzed while he is still alive?  Do you know any services that do this?  He just turned 49 years old.  He had never heard of ALS when he was diagnosed in mid-March.  I had heard of ALS but I had heard it was rare and that it just weakened people.  No one in my family knew it killed people, and he is going very quickly.

    • Amanda

      Member
      August 14, 2023 at 7:05 am

      @Frances,

      I am so sorry to hear about your brother and his rapid decline.  My heart breaks for you and your family. It is so painful for all of you.

      You can ask his doctor or neurologist to have genetic testing done.  It can be done through blood or by swabbing the mouth. It might be difficult to get insurance to pay for genetic testing if there has not been other family members with ALS.  You may be able to reach out to ALS research facilities if any are nearby. If your brother is going to an ALS clinic, they may be able to direct you as well.

      Does anyone else have suggestions?

      Amanda

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