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Unmet Needs and the Future of Treatment in SMA


Experts in SMA provide closing thoughts on unmet needs in SMA including the importance of research into treatment combinations and sequencing as well as multidisciplinary care and healthcare equity.

Dennis Scanlon, PhD: I want to end by asking each of you to look into your crystal ball and think about the future a little, given how rapidly things have changed in this disease state in recent years. Dr Schroth, I’ll start with you. Going forward, what would patients and families like to see happen in the SMA [spinal muscular atrophy] space over the next 5 to 10 years?

Mary Schroth, MD, FAAP, FCCP: We would like to see better medications with fewer adverse effects. We would all agree on that. We would also like to have additional treatments that can provide benefit to individuals who are older who were diagnosed long before these treatments became available and are taking these medications to improve their independence and function. We just need to keep going. We’re not done finding new treatments for SMA. These 3 treatments are wonderful tools in our toolbox and great options, but we’re not done looking for additional targets in the body to develop new treatments to get even better outcomes. We’ve got a ways to go. I want to be very clear. We’re not done. We do not have a cure; we have treatments.

Dennis Scanlon, PhD: Dr Lopes and Dr Stephens, from the payer perspective, what are some of the unanswered questions that still need to be resolved as we look to the future?

Maria Lopes, MD, MS: It is interesting to dovetail on Dr Schroth’s comment that despite gene therapy, we’re not done. We need to understand and individualize the treatment but also have a responsible approach that guides this discussion around shared decision-making, what is possible, and what the patients’ goals are. My plea is for data that help us as we look at combinations, how you sequence, and the incremental benefit associated with these different mechanisms of action that you’re bringing together. The evidence continues to support that despite the cost, there’s clinical benefit, improved quality of life, improving or maintaining function, and perhaps a reduction of other resources or health care resource utilization that come with this debilitating disease.

Kevin U. Stephens Sr., MD, JD: My desire would be acting early, more wraparound services, and effective interventions. Medication is 1 spoke in the wheel. It’s not the only spoke in the wheel. We have to put a bunch of other things together that wrap around to get the wheel rolling, which includes case management, all the other ancillary services, home health, respiratory care, physical therapy, occupational therapy, and speech therapy. Having a total view of the patient and a total view of the family, particularly the family members, is important. You have to get the parents on board also. Getting them to wrap their arms around what it takes to manage this illness is very important. Wraparound services are what we need to do more of.

Dennis Scanlon, PhD: Excellent insight. The researcher in me has to follow up with both of you in terms of the need for more data. Dr Stephens, I want to address your point about the impact of the things that matter in addition to pharmacologic therapy. What you’re talking about probably isn’t included in many of the trials: the interactive impact when you have all these things together relative to the impact of just the individual pieces or components of them. How are these data best collected? Is this registry information? Is this through centers of excellence? Is it also important to make sure we’re not only looking at the clinical metrics or the end points but also thinking about documenting services provided and the depth of those services, so we can understand that total picture? Do you have any thoughts on where this data should come from, who should organize it, and how it should be collected?

Kevin U. Stephens Sr., MD, JD: I like the center of excellence because when you have rare illnesses of this severity, you need to have the number to get a better grip and understanding around it and what the needs are. With sporadic cases, it’s very difficult, because not it is difficult on not only the family members but also the providers. If you look at the physical therapy, the speech therapist, the occupational therapist, and all those other services, they have 1 patient who has SMA. It’s very difficult for them to really understand it. But if you have a whole team with 10 or 20 patients, they may know what to expect and can help the family work through it so that it can be a much more meaningful and beneficial experience for everyone. Having the numbers of centers of excellence is very important so that we can try to have the shared learnings and shared decision-making and put the whole system together.

Dennis Scanlon, PhD: Let me wrap up with a final question. Dr Ciafaloni, I’ll address this to you, and then others can chime in. If we think about treatment approaches in the future, what do you see particularly as it pertains to combination therapy? As Dr Schroth said, we need to continue to develop on the therapy side. What do you hope for and expect to see in the future?

Emma Ciafaloni, MD: There are several important questions, and there is a lot of work to be done. As we start treating younger and younger, earlier age, free newborn screening, and with different drugs with different mechanisms of action, we might start seeing new phenotypes. These new phenotypes will teach us about new possible targets—most important, muscle and neuromuscular junction. Some babies might be very improved from their natural history, will develop new phenotypes, and we need to work on those new targets. Plenty of more research, different mechanisms of action, muscle and neuromuscular junction.

The other thing is that for the newborn screening, identify babies with 4 copies, there is still quite a bit of odyssey for those families because policy sometimes excludes the 4 copies, and we don’t know 100% really. Although the guidelines have updated and recommended to treat the 4 copies as early as possible, we find that’s still quite difficult in real life. For combination therapy, we’re going to learn more. I have no doubt there will be a subgroup of patients who will benefit from combination therapy, and we’re going to learn together what the best approach is to that. 

I want to leave with a comment about health disparity and the importance. We have an amazing opportunity, we’re leading the field of gene-modifying diseases and rare diseases, and how important it is as a community and as a society that we maximize access to all patients who need these drugs, regardless of their geography, social demographic, insurance, or education or how well-connected they are to providers or organizations. We need to do the best for everyone. We regard all of you, the payers, the organizations, as partners in this goal. Also, remember that SMA is a model. It’s an opportunity because there will be more diseases going in this direction with more gene replacement and gene modifying, so we have to learn and do right so that others will have an easier time to answer these important questions for other diseases. Thank you.

Kevin U. Stephens Sr., MD, JD: I would like to highlight the parents and caregivers. The caregivers can get burned out, so we have to support them in many ways. Also, many of these children are nonverbal, so the parents have to make the decisions. They have to be the eyes, ears, and everything for us and for the child. We can’t forget about the caregiver in our treatment plans because they’re human and have burnout, depression, expectations that you have to manage on what the child is going to do, what the child can do, what the end point is for these therapies, medications, and treatment protocols, and other children in the household. We have to have frank discussions about all those with these families. That is very important for us not to forget about.

Dennis Scanlon, PhD: Those are really important points.

Mary Schroth, MD, FAAP, FCCP: Thank you, Dr Stephens. I totally agree. Families take on a tremendous burden when they or their family member is given the diagnosis of SMA. It truly is a tremendous burden, and I greatly appreciate your appreciation of that. As you were saying about the wraparound services, it is so important that patients who receive these treatments also receive optimal wraparound services like physical therapy to optimize the outcomes from these treatments. It’s not just giving the treatment and you’re done. It’s giving the treatment and then working closely with that patient and their family so we can optimize that treatment, whether it’s physical therapy, occupational therapy, speech therapy, or seeing a rehab medicine physician and other members of the clinical team. All those pieces are so important. Thank you, Dr Ciafaloni, for also talking about the health disparities. Cure SMA as an organization is exploring those dimensions within the SMA community. The data are not readily available, and it will take a bit of work to uncover the patterns that are there, but we suspect that, as is common, there are health disparities within the SMA community as well as across the country in other areas.

Dennis Scanlon, PhD: I want to thank our 4 panelists for a rich and informative discussion with excellent insight and lots of good information. As I close, I want to thank Dr Stephens, Dr Lopes, Dr Ciafaloni, and Dr Schroth. And thank you, our audience, for viewing our program today. We hope you found this AJMC® Peer Exchange to be useful and informative.

Transcript edited for clarity.

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