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The importance of newborn screening for SMA

Rory and Carolyn met in seminary, fell in love, and got married. They decided to hold off on starting their own family while they settled into their first jobs in North Dakota. After a few years, they moved to Minnesota, where Rory accepted a job as a minister, and Carolyn enrolled in a hospital chaplain residency program. At the time, they did not know how important the decision to move would be for their future family. When they moved, neither North Dakota nor Minnesota had SMA on their newborn screening panel. It wasn’t until March 2018 that Minnesota adopted and implemented newborn screening for SMA, and then several months later, in 2018, Rory and Carolyn’s only son Edan was born.


This topic has 12 replies, 6 voices, and was last updated 3 months ago by Michael Morale.

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    Posts
    • #24005
      Kevin Schaefer
      Keymaster

      Hey everyone! Hope you all had a great weekend. Happy belated father’s day to all the Dads out there!

      I wanted to share Michael’s latest video with you all. This is one of the most important videos we’ve made, as Michael discusses his decision to switch from Spinraza to risdiplam. As Michael states, this was the toughest decision he’s ever had to make.

      As we get closer to an FDA-approval date for risdiplam, many people in the SMA community will face this decision. It’s certainly on my mind. Hope you all enjoy this episode, and please share your thoughts here.

      If you’re on Spinraza, are you planning on switching to risdiplam? Why or why not?

    • #24020
      Derek Markulin
      Participant

      Hello Kevin,

      I know this is probably not possible due to financial costs but I wonder if it is possible to get both treatments. Do you know if this has been discussed?

    • #24021
      Alyssa Silva
      Keymaster

      Really appreciate Michael sharing that with us. It’s a tough decision to make, but he definitely raises some good points.

      Derek, Kevin might have a better answer for you, but I’m sure it has been brought up for discussion. That being said, it would have to follow the clinical trial phases and I’m not sure that has happened. At least I haven’t heard or read anything about it.

    • #24027
      Lupa F
      Participant

      I thought it was interesting Michael said he’s still experiencing muscle loss with Spinraza. I think I started about the same time as him and I haven’t been, but I have 3 copies of SMN2 which he may not.

      As for Risdiplam and Spinraza, I have seen usually a quick statement in the press releases that says something like “patients on other treatments haven’t experienced any negative effects” so I’m guessing there’s been some overlap with Spinraza patients but they’ve mostly looked for adverse reactions rather than if taking both is better. But I’d also bet that there’s a less than zero chance any insurance company would cover both at the same time.

       

    • #24028
      Kevin Schaefer
      Keymaster

      Hey Derek!

      So I know that combination therapies are being discussed in the community. I don’t know what that would look like from a financial perspective, but I think it’s worth talking with your doctors about.

    • #24029
      Michael Morale
      Keymaster

      Derek –

      I greatly appreciate you commenting on my video. My name is Michael Morale, and I’m the Senior Director of Multi-Channel Content for SMA News Today, along with their parent company, BioNews Services

      We just recorded a podcast where we did a roundtable discussion, and the subject of a combination therapy was brought up during this recording, which will be available on Tuesday, July 7.

      I can tell you that there is some interest with regards to a combination therapy, but at this time, it’s still a subject that they are trying to decide on. Spinraza and risdiplam both work by addressing the protein deficiency in the SMN2 gene, and it’s unlikely that a combination therapy of these 2 treatments would be a viable option.

      Scholar Rock is developing a treatment of their own called SRK-015, and while it may be a couple of years before they get FDA approval, I could possibly see a combination therapy of their treatment alongside either Spinraza or risdiplam. SRK-015, which will probably be renamed in the future, addresses the Myostatin levels in the bodies of people that have SMA. Myostatin is a growth inhibitor, and this inhibitor keeps us from building muscle mass. This is purely speculation on my part, but if they did a combination therapy between SRK-015 and either Spinraza or risdiplam, we would have something that works on both the cellular level and the muscular level. I know that there’s a lot of excitement around Scholar Rock’s potential treatment.

      Regarding whether or not insurance companies would pay for both therapies is still a question that needs to be answered. This will probably boil down to whether or not the medical professionals would see a potential benefit to a combination therapy. I do believe insurance will pay for risdiplam, if and when it gets approved by the FDA sometime in August. I feel confident in saying this, because they are already paying for Spinraza, and most insurance companies have had enough time to go through the research and data, and they know that these treatments are beneficial for those of us with SMA.

      This will definitely be a topic of discussion over the coming months. I apologize for the lengthy explanation, but I wanted to make sure that I gave you all of the information that I had. If you have any further questions, please feel free to reach out, and we will do everything in our power to help you.

    • #24031
      Michael Morale
      Keymaster

      Lupa –

      It’s probably been within the last 6 to 8 months that I started noticing some strength differences in my hands, and while I do believe that Spinraza has slowed the progression of my disease, it hasn’t stopped the progression totally. I’ve talked to other people who have said the same thing regarding their condition, and given that this is the natural history of the disease itself, I’m very thankful that Spinraza has at least slowed the progression to where I’m not getting as weak as quickly as I used to.

      If you watch my videos, I’m a huge advocate of physical therapy, and I do believe that my PT has definitely helped me with regards to my breathing and my overall energy level. When I went for my last pulmonary function test, PFT, my pulmonologist did say that my levels increased by nearly 6 points, which to him, was a huge improvement. He said they normally see improvements of either 1 or 2 points.

      Regarding insurance, and the possibilities of them approving a combination therapy between 2 different treatments, this will be a question that the insurance companies along with the medical professionals will have to consider. I do believe that they will have to consider this, and in my opinion, they may have to consider it in the not so distant future. I’m sure that if and when this comes up for discussion, the pharmaceutical companies and the insurance companies will have to work together to come up with a viable solution regarding the costs. Right now, I don’t see insurance companies paying for a combination therapy, but then again, I’m not privy to all of their information along with the information that the medical professionals are providing these insurance companies. I do think it is a definite possibility that this will happen in the future, but then again, I broke my crystal ball the other day, LOL….

      Thanks again for your comments, and please let us know if you have any further questions. We will do everything in our power to give you not only the information that you want, but the information that you need to make your life better. Have a blessed day.

    • #24035
      Mike B
      Participant

      I believe there is a current clinical trial with 174 participants that is studying this combination therapy: NCT03032172

    • #24036
      Michael Morale
      Keymaster

      Hi Mike – The NCT number that you gave, (NCT03032172), An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of RO7034067 in Adult and Pediatric Patients With Spinal Muscular Atrophy, is the Jewelfish trial that started back in January 2017.

      If you go to http://www.clinicaltrials.gov and enter the NCT number in the search box and press enter, it will bring this trial up and give you all of the latest information regarding where they stand. (Here’s the link that you can use to get to this clinical trial. If it’s not an active clickable link, just edit/copy the link and edit/paste it in your web browser and press enter:  https://www.clinicaltrials.gov/ct2/show/NCT03032172?term=NCT03032172&draw=2&rank=1 )

      I don’t believe that this is a combination therapy trial, or at least that’s my understanding of it. Hopefully, later today, I may be speaking with someone who has been part of this Jewelfish trial since January 2019. I’m going to ask them questions, but they may not be able to answer too many questions, given the fact that they may have had restrictions put on them with regards to the amount of information that they can divulge. I will definitely ask if this clinical trial was part of a combination therapy trial, but I don’t believe it was.

      If I can speak with this individual later today, I will definitely respond back to you with any information that they give me.

    • #24086
      Mike B
      Participant

      I am curious as to what you found out Michael? It would at least be a “combination trial” for those individuals that were previously treated with Zolgensma, right?

    • #24099
      Michael Morale
      Keymaster

      Mike – I’ve never heard anything regarding a combination trial, and I personally don’t think that this would be an option during any clinical trial setting. I say this because during all clinical trials, the pharmaceutical companies are testing the efficacy and safety of a certain treatment that is trying to get approval from the FDA. I don’t see the FDA allowing someone to be on 2 clinical trial treatments at the same time, because this would negate any ethical data that they are trying to collect. They wouldn’t want one clinical trial treatment counteracting another clinical trial treatment, so I personally don’t think that this would be an option that would be available to anyone, solely based on efficacy and safety.

      Now, when it comes to the definition of what a combination therapy would be, I’m still at a loss for words regarding the true definition. The true definition of what a combination therapy would be, would have to come from the FDA and the pharmaceutical companies, and since there are no actual combination therapies out on the market as of yet, I’m having trouble finding a good definition as to how they would define what a combination therapy would be. Let me explain:

      ===================================================

      • Are they going to classify a combination therapy as being on 2 different treatments at the same time?
      • Are they going to classify a combination therapy as having been on one therapy for a given amount of time and then switching to another therapy.

      ===================================================

      If they define a combination therapy as having been on one treatment for a given amount of time and then switching to another treatment, then I guess you could say that I’m going to be on a combination therapy myself, given the fact that I’m going to be switching from Spinraza to risdiplam in August after it’s approved by the FDA. I personally don’t think that they would classify my situation as being on a combination therapy. (I would think that you would have to be on 2 FDA “approved treatments” at the same time to be on a combination therapy, but that’s just my logic.)

      As I mentioned in a previous post to you, Scholar Rock is working on their potential treatment known as SRK-015, which will work on the muscular skeletal issues regarding the ability to grow muscle mass. Both risdiplam and Spinraza work on the cellular level by correcting the SMN2 gene deficiency in producing protein. I see the possibility of these 2 treatments working together as a possible combination therapy, but again, this is something that still hasn’t been decided as of yet.

      The person that I know that is part of the Jewelfish trial was on Spinraza when it first came out, but then switched to risdiplam during the early part of 2019. I don’t think this was considered being on a combination therapy, because I think he had to be off of Spinraza for a given amount of time before he could start risdiplam, and since risdiplam has not yet been approved by the FDA, I don’t think this would be considered a combination therapy.

      Regarding Zolgensma, I’m not really sure if any of these clinical trial participants had been on any other trials or treatments while receiving Zolgensma at the same time.

      I know that this was a lot of information to try to absorb, and I apologize if I made the waters even more muddy than they already are.

    • #24104
      Mike B
      Participant

      Thanks for responding so promptly Michael. My reading was, one of the Jewelfish study prerequisites included prior treatment by one of the SMA drugs specified. Since Zolgensma is a one time treatment I believe those individuals previously treated with Zolgensma, now enrolled in Jewelfish would be considered as receiving combination therapy? I wasn’t trying to get into linguistics or semantics, just really interested if these treatments are being explored together.

      From the Jewelfish literature:  “Among the 174 patients enrolled, 76 were previously treated with nusinersen (Spinraza; Biogen) and 14 with onasemnogene abeparvovec (Zolgensma; Avexis). The remaining 83 patients had been treated with compounds then being developed by Genentech.”

    • #24105
      Michael Morale
      Keymaster

      I personally don’t think that this would be considered as receiving a combination therapy. You are correct when you say that this was one of the prerequisites, and the example that I gave you regarding the gentleman that I know that had been on Spinraza and then moved to risdiplam in January 2019 is an example of this.

      I don’t believe that any of these treatments, such as Spinraza and Zolgensma, and possibly even risdiplam, once it’s approved, will be used in conjunction with each other at the same time. I know that there is a time limit that you have to be off of Spinraza before you can start risdiplam, and I’m sure that this will be the same stipulation once the FDA approves risdiplam and writes the label. My understanding at this time is that you are only allowed to be on one specific treatment at a given time.

      There has been conversation regarding risdiplam possibly being used in conjunction with another treatment, but at this time, the pharmaceutical companies and the medical establishments have not said for certain as to when or if this will happen. If it does eventually happen, then I think this would be the first reported combination therapy.

      Again, I apologize for my long-winded response to you last night. Please let me know if you have any further questions, and have a great day.

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