-
SOD1 ALS – QALSody treatment
From time to time, I update our online community about my ALS journey. All of journeys are unique and we all face unique challenges.
A brief summary of my past – unofficially diagnosed in December 2022 through a research study, pre-fALS study. At that time my FVC was in the mid 80s. Then after my breathing tanked with a FVC of 24, I was officially seen at the ALS Clinic and officially diagnosed May 19, 2023. I have the SOD1 mutation associated with ALS. I attempted to get on Toffersen/QALSody through the Compassionate Care act and that did not happen. The drug was conditionally approved in April 2023 – I started July 12, 2023. At that time my prognosis was approximately 2 months – Ha!! Guess what…I’m still here and my breathing has improved by over 20% as of January 2026. It has been a very slow and gradual improvement, slow but steady. I’ll take it! Everything has improved slowly, except for the bulbar area.
So, here is the bad and ugly parts. The treatment is working on everything except from the neck up, the bulbar area. Thankfully this isn’t the same for the majority of pALS on the drug. In most ways my response is much better than average, except for the bulbar area. From what I understand there are a handful of us that are experiencing similar difficulties. My doctors are hypothesizing that not enough of the medication is making its way to the parts of the brain (lower brainstem). We need to figure out how to get the medication to this part of the brain! Yes, I say “we” because my doctors actually listen to me and my ideas. I doubt any of my ideas are novel, but I keep reading and asking questions and then I walk in and say, “Why can’t we inject the drug higher up, closer to the brain.” I even suggested one of those inverted plane things – hanging upside down. That idea was nixed due to breathing challenges.
Now we are going to try two new things.
First, they are working on getting the treatments every 21 days instead of every 28 days. This is being done on at least one other patient from what I read on a social media group. The research team is working with Biogen to set up a clinical trial for the 21-day regimen. I’ll share more if this actually works out.
Second, my doctor wants to try doing the procedure in the cervical area instead of the lumbar area. Right now the intrathecal procedure is done between L3 and L4. “When an intrathecal procedure is performed in the cervical spine area, it is most accurately called an intrathecal cervical administration.
Intrathecal procedures involve injecting medication directly into the subarachnoid space (also called the intrathecal space) — the fluid-filled space surrounding the spinal cord and nerve roots. In the cervical region, this means the needle is inserted into the subarachnoid space in the neck, typically between the C2–C3 or C3–C4 vertebrae, to deliver drugs such as local anesthetics, adjuvants, or other agents directly into the cerebrospinal fluid (CSF).”
Today my doctor said they will more than likely have to do imaging with contrast through the lumbar procedure to trace the flow to see if there is an area that is impeding the drug from reaching the brain. He explained that the spinal canal could be narrower and limiting the flow of the medication. Of course, he sounded much more like a doctor and used more scientific words than I am using. He said that insurance may want this to support the procedure, but he wants to try it regardless of what it shows. He explained that the medication could react differently than the agent they are tracing. It’s my understanding that this will be the first time it will be done with this drug. I’m expecting an update in the next couple of days.
I refuse to sink! And, if I can volunteer to do something new or different in hopes that it will help other pALS, you can bet your last cent I will!
Amanda –
-
8 Replies
-
Wow Amanda – – thank you for sharing the details of what you are experiencing with the treatment and those injections. Cervial injections might have risk, so I am glad your doctor is being cautious. But I also hope you will get an answer soon. We all appreciate you!!!!
-
Amanda — I appreciate your periodic updates with the ups and downs of your journey. I certainly benefit from your story, and others, on the QALSody ASO. I am also on a research ASO for a different genetic mutation — CHCHD10. I am only 8 months into the therapy with too short of a window to make any claims, other than my journey is good so far. The December 2025 VALOR study report on QALSody and your stories help frame what I may expect to see in a few more years; realizing, however, the ALS journey between individuals can vary widely.
-
Thank you, Denny! If you ever want to talk or chat, just reach out and I’ll send you my information. I think the mutation specific ASOs are going to be a major player for all of us. I think what they are learning will also benefit sporadic ALS. It has not been an easy journey but well worth it. I hope your trial is successful beyond measure!!
Cheers,
Amanda
-
-
Amanda, I too have the SOD-1 mutation determined from a genetic test done as a last resort. This followed 4 years of symptoms that slowly got worse. I was able to get on Qalsody almost immediately beginning April 2025. Symptoms began in one foot and proceeded to lower leg and foot weakness in both legs. Started to experience cramping and fascination in hands but nothing bulbar I.e. no impact on speech, breathing, swallowing, etc. As in your case, some of these symptoms have stopped progression and slowly diminished. Hands are nearly symptom free, legs have been stable for a year plus. No improvement where symptoms first appeared (yet). Hopefully, this research path will prove fruitful for a broader group.
-
I’m so happy you were able to get on QALSody so quickly. It also sounds like you and your doctors actually caught ALS in the very early stages. My cousin was diagnosed with ALS in November and stated treatments in December. My doctors believe that when SOD1-ALS is caught early the drug may stop the progression. It still blows my mind that we have viable treatments. I know there are several other treatments in clinical studies that are targeting other mutated genes.
-
There is an experimental drug in China called Reg17. Specially targeting Sod1, we have achieved excellent results and have entered the second phase of clinical trials.
-
Wow, that is awesome!! Please post updates as you learn new information. I am hopeful that the ALS Association and community may be able to meet the loathy goal of making ALS a livable disease by 2030. I would prefer a “cure” verse on going treatments, but scientist and doctors are on the right track.
-
Thanks for the info! Please keep us posted on how the clinical trial goes. Hopefully if successful it can be quickly brought over here to the US and go thru the process for FDA approval
-
-
Log in to reply.