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    • #13705

        Today I had a phone interview with my case manager from the University of Miami  ALS research study. Daniel is wonderful and she always offers suggestions or contacts on where to find answers is she is unable to provide.  I had many questions, and unfortunately I was unable to take notes.  I thought I would share some of the conversations and information that Daniel and the neurologist shared.  Today, I was asking about the clinical trial that they are participating in. The clinical trial is targeting the SOD1 and C9 gene mutations. They are comparing  pALS with slow progressing ALS and with aggressive progressing ALS who are receiving gene therapy.

        I was wanting to know if their research was gene specific and how the different genes with mutation are driving research. The doctor explained that part of a study focuses on how to treat the SOD1 gene mutation. The hope is that it will stop the progression of ALS, or drastically slow it down.  They have enrolled about half of the pALS that are permitted to participate in the clinical trials at their site. Unfortunately my cousin was not admitted into the trial. Although he met the criteria, they had already accepted half of the participants (the half with slow progressing ALS). I guess in a way that is good news.

        Then the neurologist explained that in my family the mutation in the SOD1 gene is the less common mutation (for the SOD1 gene). It is typically slow progressing; but can also be very aggressive. She explained in some cases related to specific gene mutations there appeared to be clear progression rates (slow, average (2-5 years) and extremely aggressive 6-8 months.  I don’t recall (but will follow up with questions) which genetic mutations were typically associated with which ALS progression rate.

        My visit to the ALS clinic in Miami is next month; I will ask lots of questions about their clinical trials, research, and hypothesis.

        How many of our members are not pALS, but have been tested and are aware that they have a genetic mutation? Are you involved in research and if so, could you share what you have learned.

        For pALS, are you involved in any studies? What have you learned about you particular case of ALS from you medical team?


      • #13715
        Nancy L Worden

          Hi Amanda; I  have the SOD1 mutation and I also have the slow kind. Since May of 2017 I have been participating in the BIIB067 (originally  IONIS-SOD1 Rx) drug trial in San Diego at UCSD. I completed the phase 1 part of the trial in 2017 which was a double-blind and I’ve been participating in the continuing trial since February 2018. The continuing trial is open label which means that I know I’m getting the drug. It took them several months to ramp up my dosage from 40 mL to 60 mL and finally 100 mL of the drug which I receive once a month in a spinal tap. Since I live in Seattle, it is a journey for me to go to San Diego every month, though it’s better than going every week which I did for seven weeks during phase 1. Mostly I go down there by myself and I am not going to say that it’s easy. I have enormous respect for John Ravits and his staff and that is what has kept me going. Ravits is the principal investigator for the drug trial and the anti-sense technology was developed at UCSD. Ionis and Biogen combined their efforts for phase 1 and last December, Biogen had seen results significant enough to buy the technology from Ionis. The drug is now being  referred to as Tofersen.  UCSD is also participating in an anti-sense trial for the C9 mutation and gearing up for the same with Huntington’s disease.

          The anti-sense technology is a manufactured mRNA designed to bond to the mutated gene and prevent it from producing the protein that causes the symptoms. That’s a very simplified explanation.  Last December when Biogen decided to exercise their option to buy the SOD1, drug I was told by Ravits that the drug was working best with patients who have the fast kind of SOD1 mutation. However, he also said that almost all the patients participating in the trial had shown some improvement. Drug companies never share the individual data they collect during the drug trial. I will never know if I got the drug or the placebo in phase 1. However, when they discovered the advantage to the people with the fast kind, they immediately started putting together a special trial targeted  for those patients.

          The good news perked me up even though I didn’t know if it was helping me personally. What I did notice was that the travel was hard on my body. As far as the data that they collected from me I didn’t notice any improvements but I also noticed that their equipment for collecting pulmonary information was not as sensitive as what my pulmonologist in Seattle works with. This drug trial is taking place in 17 venues around the world and they all use the same equipment. If there’s one thing I have learned these past three years, it is that a drug trial is about collecting data,  not treatment. Quite frankly, I quit worrying about the data but I do share the scores from my pulmonary tests that I get in Seattle.

          Recently I saw my pulmonologist, the one who prescribes my BiPAP, and it was his opinion that my speech and breathing had showed more improvement than just what I would normally get from using the BiPAP. In other words he was telling me that the drug was working for me.

          I was ready to quit the drug trial but now I am rethinking it. Participating in the trial has taken a lot of my time and energy and it has cost me financially because I can’t work very much on the weeks that I go to San Diego. The symptoms of the drug aren’t too bad but the symptoms from the spinal tap and the travel are exhausting.  It would be better if I had someone to take care of me while I’m down there and I have hired someone to help me the day after my dosage as I am often too tired to pack my bag and dress myself. I do not have a family member that can travel with me but my nephew lives in Los Angeles and he has come down several times to help. The drug company compensates patients for travel, hotel and food however they  enforce limits and I pay whatever costs exceed the limits.

          I would be happy to answer any questions that anyone has about this particular drug trial. I have never regretted participating in it  and I have learned so much more about ALS and SOD1 than I knew before.  It has been hard to stay with it and 31 spinal taps is no small deal. What I like is being so close to but it’s happening and things are exploding in ALS research. It is a very exciting time.


          • #13719

              Hello Nancy, and thank you so much for sharing your information. I do believe that is the same study that the team in Miami is participating in. I know there are numerous sites participating and what you described sounds just like what my case manager was telling me.

              I would also like to thank you for participating. Without people like you willing to volunteer and endure all the unpleasantness, they would not be making advances! I admire you for undertaking such a challenge with little family help.

              I think it is so beneficial that so many doctors and research teams are working together!

              Please keep us posted as the research progresses. As I learn more about what they are doing in Miami, I will also share.


          • #13716
            Rudy Palenik

              Hi Amanda, I had a test for C9 mutant gene about two months ago by NEALS. It came out negative. If it was positive there would be a 50/50 chance that my daughters and my son would get it.

              • #13718

                  @ Rudy, that is great news that your children will not inherit the mutation!  That must be of some comfort to you.

              • #13735

                  Hello Nancy

                  What about TDP-43 which is seen in more than 90% of ALS cases? please share anything you know about it.


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