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How different generations living with SMA can teach one another

Meet Regina and Al. Their friendship and respect for one another all started at a fundraiser before a Phillies baseball game in 2019. “I watched Regina give a beautiful speech at the event about her recently diagnosed son, Shane,” recalled Al. “I thought to myself, ‘My friends at Cure SMA need to meet this amazing mom and get her involved.’”


This topic has 23 replies, 13 voices, and was last updated 1 year, 5 months ago by Ryan Berhar.

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    • #16219
      Krystal
      Participant

      My daughter saw a neurologist SMA expert today. She is one of the medical advisors for CureSMA. She says it will take a month until we can get her on board with Spinraza (due to appealing and approval processes), but she also suggests to wait on Spinraza until HOPEFULLY April 2019 because open enrollment should open to begin screening for an intrathecal administration of AVXS-101/Zolgensma for SMA Type 2. Currently, my daughter meets the inclusion criteria. However, they will need bloodwork to test for Anti-AAV9. Apparently, this treatment needs AAV9 to transport SMN1 to the body. So if she happens to have Anti-AAV9 antibodies, she would be ineligible for the trial. I do not know if they can test for this now or if we will have to wait. On top of that, since it is a clinical trial, there is no guarantee that this study will be approved by April 2019.

      If she gets onto Spinraza, there is a wash-out period of 2 years before she can get onto any other clinical trials.

      We are thinking of waiting unless our daughter starts to decline. Or maybe, as I have read, we should get started on Spinraza because “the sooner the better,” and because I don’t know 100% that we will be in for the trial in April. Does anyone have any opinions on this?

    • #16224
      Kevin Schaefer
      Keymaster

      Great question Kyrie. I’m going to try to get some other perspectives here as well, but my personal opinion would be to go for Spinraza. Zolgensma is incredibly promising, but it still has to be approved, and it may be some time before type 2 patients qualify for it. Spinraza has really shown some incredible results for infants, and I would pursue it. I do want to get some other perspectives on this though.

      • #16250
        Krystal
        Participant

        Here is the link to the clinical trial: https://clinicaltrials.gov/ct2/show/NCT03381729?cond=spinal+muscular+atrophy&cntry=US&age=0&rank=28

        I have spoken with my daughter’s neurologist as well as some research coordinators from different sites regarding this study. This study is for patients with zero copies of SMN1 and 3 copies of SMN2, and after reading through the inclusion criteria and verifying with other research sites here in Dallas, Boson, Chicago, California, and more, they have told me that my daughter is congruent with the inclusion criteria. Unfortunately, enrollment period for this cohort is completed, and the next opening is HOPEFULLY April 2019, if all goes well after dosing the first 3 patients.

        The only thing I am not sure of, is that during their screening, they need the patient to do a blood test for Anti-AAV9 to see if she is eligible. I notified the neurologist, who gave me a number to contact and see if independent testing can be ordered, so that I’m not wasting my time waiting for 4 months only to find out she has the antibodies to make her ineligible, when she could’ve had her first few doses of Spinraza by then.

        The neurologist advised me, however, that if we treat her with Spinraza now, then my daughter will not be eligible for the Zolgensma trial, because another requirement is that the baby has not been treated with any drug therapy for 2 years.

        So this is my current dilemma. I am scared to wait 4 months, but I would prefer to try the gene therapy first instead of Spinraza. At the same time, I don’t even know if she will remain eligible in 4 months, I don’t know if the trial will still be good to go by April, and I am afraid of seeing regression. I’m assuming the speed of regression is individualized?

        I did reach out to the neurologist just now, who said she can start us on the process to get spinraza (since it takes a month), just in case we see regression before the 4 months.

        • #16252
          Kevin Schaefer
          Keymaster

          It’s a tough call for sure, and we support whatever decision you make. But I think waiting could be risky, and Spinraza will definitely have benefits for your daughter and will stop the progression. It’s the route I would take if I were in your shoes, but again it’s your decision. All the best.

        • #16256
          Krystal
          Participant

          Thanks. I am starting the process for Spinraza, just in case we see a decline with her sooner rather than later. Since it’ll take about a month, I hope that my daughter’s function is maintained for these 3 months, and it’ll also give us about a month to decide if we want to go ahead and dose with Spinraza or wait for the gene therapy trial. I prefer the trial, but there’s so many ifs, ands, and buts. I’m reaching out to a research coordinator for the study to find out if there’s any way to get her screened earlier.

        • #16279
          Monika Lemeshonok
          Participant

          Kyrie, tell me please, already allowed combination therapy such as gene therapy + spinraza or<gene therapy + Roche. I also have type 2 sma and I hope that in the future gene therapy will be available for adults with type 2. Maybe could you give email contact of doctor who knows about the availability of Zolgensma for adults?

    • #16227
      Michael Morale
      Keymaster

      Kyrie,

      My name is Michael Morale, and I’m the Forums and Multimedia Director for BioNews Services. I was asked by Kevin Schaefer, who is the moderator of the SMA News Today forum, to respond to your question. As of right now, the projected timeframe for ZOLGENSMA to possibly be approved by the FDA as a treatment for SMA is somewhere around May or June 2019.

      Once approved, which I’m sure it will be, ZOLGENSMA will only be available to infants nine months of age or under, who have SMA Type I. I know that there is also a weight limit involved, but I think that any infant that is meeting the age criteria with SMA type I will be eligible to receive this treatment. If approved, ZOLGENSMA will be an IV delivery. Results from the clinical trials were extremely impressive, but if you listen to all of the experts who talk about SMA, they will tell you that if you have an active treatment that is already available, you should go to that treatment as soon as possible because timing is crucial when it comes to the treatment of SMA, especially in young infants.

      I’m not sure as to the age of your daughter, but if you consider the fact that we are still another 5 to 6 months away from the potential approval of ZOLGENSMA, your daughter would have to be less than three months of age at the present time to be accepted into this program. Also, remember that the advice that I’m giving you is only advice, and you really need to speak to your doctor regarding ZOLGENSMA and Spinraza. BioNews Services, and all of their forums that they run, are meant for informational purposes only, so please consult with your doctor to get their opinion.

      Spinraza, if given to infants at an early age, has shown to be extremely effective in helping infants achieve motor milestones similar to healthy children. Of course, results will vary from child to child, but if you’re asking my opinion as to whether or not I would wait on ZOLGENSMA to be approved or to go after the treatment from Biogen, me personally, I would try to start my child on Spinraza as soon as possible because timing is crucial. Remember, these are my opinions and my opinions only.

      • #16253
        Krystal
        Participant

        Fortunately, the clinical trial I’m referring to is for Type 2, and that from the looks of the description, she currently meets requirements. I also spoke with a neurologist who says they can get my daughter into the study in April in the Dallas area if all goes well and she remains eligible.

        Here is the link to the trial: https://clinicaltrials.gov/ct2/show/NCT03381729?cond=spinal+muscular+atrophy&cntry=US&age=0&rank=28

    • #16228
      DeAnn R
      Keymaster

      Such a tough call. What is your “mommy gut” telling you? I’m inclined to say if there’s an option to get into a trial in the near future I might opt to wait. I know with Spinraza the sooner the better, but if she’s a strong type 2 I don’t know that a few months would be detrimental to her well being. From my understanding Zolgensma is a one time treatment that targets the cause of SMA which is a lot better than Spinraza. Spinraza is an ongoing treatment that targets the backup gene to make it more effective. That backup gene just isn’t as effective as we need it to be. Would there be a way to get Spinraza approved and ready if the trial fell through?

      • #16254
        Krystal
        Participant

        I am currently trying to start the process for Spinraza, since it’ll take about a month to get approved. However, the clinical trial is in April, which is only a little more than 3 months away. I am willing to wait 3 months for gene therapy vs Spinraza, but I want to get Spinraza approved and ready to go just in case she declines during this wait. I also don’t want to find out that we are not eligible for the study and then have to wait an additional month before drug treatment.

        I am currently trying to get in contact with the research coordinator to see if there’s any possible way to get screened sooner than March for the study. I hope for the best!!!

    • #16229
      Ryan Berhar
      Keymaster

      As I suggested yesterday, I think getting your daughter on Spinraza should be your number one priority. Even though I personally opted to wait for future treatment, I don’t think it makes much sense for a 13 month old to do so. She stands (pun intended  lol) to lose a lot of strength if left untreated. Halt the progression of the disease as fast as possible. Keep in mind that when/if better treatment does become available, you should be able to switch over.

      • This reply was modified 1 year, 7 months ago by Ryan Berhar.
      • #16255
        Krystal
        Participant

        I wish I could switch over, but according to this clinical trial for Zolgensma, they want the infant to not be on drug therapy of any kind for 2 years. Here is the link to the clinical trial: https://clinicaltrials.gov/ct2/show/NCT03381729?cond=spinal+muscular+atrophy&cntry=US&age=0&rank=28

        I am in the process to get Spinraza, since it’ll take hopefully a month or less for approval. That’ll give us some time to continue thinking about whether to wait for the study or to go ahead and give Spinraza. I would rather opt for gene therapy, but the wait will be about 3 months MAYBE, if everything goes well with the study. And on top of that, I need to make sure my daughter is eligible for the study. She appears to be, but not sure on her lab work that she will have to do. I am contacting the research coordinator to see if there’s any possible way to get screened sooner than March for the study. I will definitely keep everyone updated.

        • #16267
          Todd
          Participant

          It is a difficult decision to have to be faced with.  My son has SMA II.  He was set to receive Spinraza on a friday morning, his first dose, back in August of this year, and the Doctor had to cancel the procedure due to a personal issue.  He was brought into the STRONG study that very same day.  Strange how things occur in this world.  However, friends of ours, have a child with SMA I whom has been on Spinraza since the clinical trial began, he is now 5, and I witnessed him stand from his wheel chair, and walk to me, just this very past weekend, so I know Spinraza works, and your child needs it badly.

          Had AVXS-101 not been available for my son in the STRONG study, then I would have never thought second about dosing him with Spinraza.  Tough choice.  Just know that AVXS-101 is only available for type II’s in the clinical trial phase.  It is a ways out before being available for anyone other than those worse off.  YMMV.

          Todd

          • This reply was modified 1 year, 7 months ago by Todd.
        • #16269
          Krystal
          Participant

          Thanks for your response. I do think it’s crazy how things occur in this world, and am very glad that your son was able to get into the STRONG study that same day that you were about to get dosed with Spinraza.

          It is a tough choice for sure. I know Spinraza works, but the mechanism of action is different for Spinraza vs AVXS-101. AVXS-101 is gene therapy, and I would much rather give her the missing SMN1 gene than slow down the progression of SMA with Spinraza. My husband and I did get the process started with Spinraza, since it takes a while, so we have a little bit of time before we make a final decision of what to go with. It’s been a struggle for me every day to figure out the best option for my daughter.

    • #16270
      Dennis Turner
      Participant

      This topic is just ripping me apart. We all want the best for our children, but deciding which treatment/therapy is the best is difficult.

      I am a 59 year old man with SMA3 and was able to walk/drive until a year ago.

      When I was diagnosed, there were no therapies and little hope for a normal life (whatever that is). Yoday I have a wife, three sons, and a beautiful granddaughter all of who are healthy and SMA free.

      Kyrie, I pray for you and your family as you try to decide what to do for your daughter. Any decision you make will be the “right” one for her. Prayers also for your next child. You and your husband are both doing everything you can to help make their lives better.

      You are good parents.

      • #16271
        Krystal
        Participant

        I am a first-time mother, and also pregnant with my second, so I definitely feel like I’ve been on a roller coaster of emotions, going from being positive to be a carrier, to having my husband be negative to be a carrier, to having a positive of having the disease in my daughter, and so much more. I feel like I’ve been through so much in a short time, but I feel very grateful for all of the available resources out there and the information I have gathered so far. It honestly has been a life changing experience, and I will continue to grow and love on my daughter while punching SMA in the face. SMA messed with the wrong mama.

    • #16272
      Kelly Miller
      Participant

      1st, let me say that I am a 55 year old woman, and I have SMA 2. I made the decision to not try for Spinraza last Spring in the hopes of a new treatment coming along relatively soon & because I did not like the mode of application. That being said, if I had a child who has been diagnosed at 13 months with SMA 2, I would definitely go for the therapy that is currently being done & is approved already: Spinraza. I agree that the Zogensma sounds better because it is a gene therapy, but Spinraza has been proven to work already, especially with young children. You have said several times that the trial for Zogensma for type II kids MAY BE starting in April, and there is no guarantee your daughter will qualify at that time due to possible antibodies in her system. The way things seem to work in the drug trial world is to often times see postponements and cancellations. I don’t think I would take a chance that this would happen, thus delaying her treatment unnecessarily for months.

      2nd, it is heartbreaking that parents are in these types of decision-making situations that will affect their children for a lifetime. I can’t imagine the stress & anxiety that having to choose which therapy would be best without more definitive information for you. We can all give you an opinion of what we would do, but ultimately it’s your decision & you are the best person to make it. You love your child unconditionally and would only make good decisions on her behalf. You can’t second-guess yourself down the road no matter how things turn out. Based on the facts that you know them at the time, you will make the best decision – whatever that might be!

      As a side note, I am the eldest of 2 kids. My brother who is 2 1/2 years younger has never had any signs of SMA. When I was diagnosed at age 5, there were no screenings to tell if a baby would be born with it. In fact, they didn’t even know what I had for those 5 years. I know that my mother must have felt horribly to find out that she passed on the genes for me to get SMA, but I also know that she raised me to be just as independent & productive in this world as she did my brother. Enjoy your 2nd pregnancy as much as you can because there are so many things that this baby will do in this world no matter what. And, your daughter will be somebody also! She will fight & engage & affect so many people in her life, and you were chosen to be her mom. 🤗

    • #16273
      Krystal
      Participant

      Thank you so much for your response. I agree that clinical trials are just “chance” and they can be delayed and/or cancelled. This is part of the anxiety I feel when determining whether to start Spinraza or wait for a possible opportunity. At this point, we ARE in the process of getting Spinraza on board, so I feel like I’m doing something rather than sitting around twiddling my thumbs. My family and I are working hard on her physical therapy, seeking out further resources to keep her functioning optimally for the trial. I hope for the best.

      Have a happy new year! And thank you, I am trying my best to enjoy my second pregnancy. 🙂

    • #16285
      Jenny Rellick
      Participant

      Hi,

      I am a health policy and economic professional who has Type 2, and there may be a financial reason for choosing the Zolgensma trial, especially if your daughter has private health insurance.  The Zolgensma trial on which the FDA application is based only had 15 Type 1 subjects receiving treatment.  I’ve never heard of such a small number of patients in a clinical trial going before the FDA. The price of Zolgensma is projected to be $4 million. While Spinraza is also very expensive– $750,000 for the first year and $375,00 for each subsequent year– insurance companies would much prefer to pay for Spinraza instead of Zolgensma.  From a private health insurance company’s perspective, a patient can be treated with Spinraza for 9 years for the price of Zolgensma, and in nine years, who knows if your daughter will be covered by the same insurance company. Insurers are finding that they can’t refuse to pay for Spinraza because it is FDA approved as safe and effective for all four types of SMA, and, most importantly, there are no alternative treatments.  For Zolgensma, there is an alternative. Given the small number of patients in the first Zolgensma trial, the FDA may limit approval of Zolgensma to Type 1 patients for safety reasons.  In a meaningful statistical sense, 30 out of 30 patients would have to be treated safely, and that is still very marginal evidence.  Spinraza had 120 treated patients in their trial without serious complications.  I have no idea why Zolgensma has such a small study size other than it was cost prohibitive to test more patients.  The FDA may reason that the survival of type I patients is still precarious given that some don’t respond to Spinraza as well as others, and the risk associated with approving Zolgensma for type 1 patients is outweighed by the survival benefits.  I suspect they may want more data before approving Spinraza for types 2 through 4, even though it is certainly effective for all four types based on genetics. Even if the FDA approves the drug for all SMA types, private insurers are going to fight against paying for  Zolgensma by saying there’s an alternative, Spinraza, with better evidence that it’s a safe and effective treatment for SMA. With an alternative available, Zolgensma may fail the “medically necessary” provisions of many policies. The results for Zolgensma are amazing, and I think that it will likely prove to be as safe as Spinraza, but it may take years for the data to bear that out.  Insurance companies are going to push back much, much harder on Zolgensma than Spinraza. If your child is in the clinical trial, you don’t have to worry about insurance.

      I guess what I am saying is that just because FDA approval is anticipated this summer, the battle for getting Zolgensma covered by insurance will be much, much harder than for  Spinraza, and many Americans are still being denied Spinraza.  I have type 2 with 3 SMN2 copies, and I didn’t progress much if at all between ages 1 and 3.  However, I was an only child with a stay-at-home mom who had minimal exposure to sick people, and that isn’t as possible today. I  didn’t catch pneumonia until I was 5 and in school. If your child catches pneumonia or the flu, there could be considerable progression. I don’t know if that prospect changes your decision one way or the other. I hope these factors prove helpful in making a decision you feel good about.

      Jenny Rellick, SMA 2, 48

       

      • #16292
        Krystal
        Participant

        Good morning and happy new year Jenny!

        Thank you so much for your input, as it provided great information to consider. Thank you also for noting that your progression was pretty much halted between 1-3. I understand everyone is different, but it is hopeful to learn more and more from other Type 2’s and their experiences. It gives me more of an incentive to ensure my daughter stays especially healthy during these next few months.

        • #16295
          Kevin Schaefer
          Keymaster

          Yeah the level of progression really varies. I’d say my strength remained pretty steady when I was about your daughter’s age, but then I lost a lot of abilities in middle and high school. That particular aspect is impossible to predict, given that every person with SMA is different.

    • #16316
      Adnan Hafizovic
      Participant

      Kyrie reallity is that Spinraza helps to kids with SMA,so my advice is Spinraza.And Spinraza is aproved cure for SMA.

    • #17241
      Robert Stump
      Participant

      I know I am late to this conversation, but I thought I would share my thoughts as a 48-year-old who has SMA Type 2.  I have actually been struggling with the thought of taking Spinraza myself.  I initially did not jump at the chance, hoping for real-world evidence before undertaking the lifelong journey of periodic spinal injections.  Now, I read about the amazing results of Zolgensma and I am wondering if I should wait for it or if I should “give up” and just accept Spinraza.  I know, even reading that last sentence makes myself cringe because I have waited so many years for any type of treatment, why am I not jumping at the chance, especially since people in other countries are having a much harder time getting it approved and paid for?

      But, I digress.  The question at hand is what would I have wanted my parents to do given the opportunity presented in this thread?  Would I want them to wait and hold off on giving me an immediate treatment that certainly would make a difference, for the chance to get into a trial for a super promising (okay, I am going to say it) potentially curative treatment 4-5 months away?

      For me, having SMA Type 2, the answer is unequivocally yes, with no reservations.  If I had SMA Type 1 or if I was an extremely weak Type 2, my answer would be no because it would have been too risky to delay at that point.  From what I understand about the progression of my disease, and the potential for Spinraza to slow it down, delaying it will certainly make it less effective, but the rewards for me would outweigh the percentage of disease reduction starting Spinraza right now would allow vs. starting it (at most) 6 months from now.

      If these treatment options continue, and we continue to see future treatments coming down the pike, it still blows, but comparatively this is a very positive time to be born with SMA Type 2.  What I wouldn’t give to have had such choices when I was just a youngin’.  I know this is a difficult choice to have to make for your child, but what a wonderful problem to have compared to having no choice whatsoever.

      • #17249
        Ryan Berhar
        Member

        Hey Robert, I’m Ryan, one of the forum moderators. Good to hear from you. Just to briefly summarize my own situation, I’m 22, and have type 2. I tried to get Spinraza for like a year and a half, but I eventually gave up, because it was just setback after setback. It is my opinion that children (young children in particular) should get on Spinraza ASAP, because frankly, their chances of surviving without it are in jeopardy. It’s just extremely risky for them to holdout for future treatment. Now for adults like us, chances are we can afford to wait a little longer. But then again, there’s no guarantee that a better treatment will be available for us. It’s so tough. In the end, everyone just has to make the best decision for themselves.

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