A multidisciplinary panel of experts discusses the rapid pace of advancements in disease-modifying treatments and shares insights into how to work with payors to adapt and improve policies.
Dennis Scanlon, PhD: Dr Lopes, we’re going to get into the disease-modifying treatments, and 3 in particular, in just a moment. But before we do, maybe you and others could comment on how this is a rapidly moving area in terms of treatment, diagnosis, detection, gene therapy, gene testing, and so on. From your experience, has the rapid evolution and change mostly occurred in the last 5 years? Is it the last 10 years? How do you see it as a clinician?
Maria Lopes, MD, MS: It’s been remarkable. It’s a contrast with what was available 5 years ago. This was not an area of focus at all for payers. We now have 3 treatments available with more in the pipeline as well as gene therapy. It’s a very exciting time, but it’s also a bit scary for payers. These treatments come at extraordinary cost. It is rapidly moving, as we have multiple treatments. Some of the unanswered questions around the gaps are: How do you sequence? Do you ultimately just cycle through the 3 options we have? What is the role for combination therapy? It’s critically important to be able to gather the data and be evidence based. This is not just because of cost but also safety considerations and to understand what kind of impact we’re having around the disability progression aspect and the quality of life. For the more severe patients, what does it mean? There are unanswered questions regarding developmental milestones, survival, and overall clinical benefit, which may still continue to deteriorate. The concept that a gene is a cure is a little erroneous. We also don’t know the durability of the effect or what to add and when to add it. I’m intrigued by the predictability of the number of copies. They predict how aggressive you need to be, but what does that look like? What does that algorithm look like? Hopefully, new treatments will also be forthcoming that add more treatment options. It’s exciting, but there are a lot of unanswered questions at the same time.
Dennis Scanlon, PhD: Dr Schroth, I imagine that Cure SMA [spinal muscular atrophy] is 1 of the go-to entities for families and caregivers to learn, become educated, and seek resources. These rapid advances must keep your staff taxed in terms of how to provide this education and answer questions. What’s your perspective on how rapidly things have moved and how you at Cure SMA are dealing with that in terms of awareness and getting information out there?
Mary Schroth, MD, FAAP, FCCP: This has been a long time coming, in a sense. Cure SMA has invested in finding treatments for SMA for a very long time. I would say it’s been over the last 5 years. We had approval of the first drug in 2016, the second drug in 2019, and the third drug in 2020. We’re going to talk more about these in greater depth. The approval of the first medication was a complete game changer for this disease. It changed families’ perspectives from being given a diagnosis and thinking, “How do we manage this? Our baby is going to die,” to, “Oh my gosh. Now we have to choose from 3 treatments.” It’s a totally different world.
At Cure SMA, we are very invested in providing accurate information to our families. We don’t choose for people. We’re all about creating options for patients and families impacted by SMA. Having 3 options for treatment is incredible. There’s so much we need to learn about these treatments, though. We’re also keeping an eye on what is happening on the payers’ side of this. Payers are a significant stakeholder in the SMA community, along with our family community, health care provider community, and researcher community. We’re at a point where we don’t know what the best medications are, what the best combination is, or what the sequence should be. We’re learning. It’s been a bit challenging when we see policies being established saying to start at a particular place or give 1 medication over another at this point in time. We’re at a phase where it is so important for the clinician and the family to work together to determine which direction to head, based on the clinical situation and what they know about these medications. At Cure SMA, we see ourselves as providing as much information as we can in an unbiased way. It’s been incredible to be a part of an organization that is gathering and sharing information in a rapid way.
Kevin U. Stephens Sr., MD, JD: One challenge that we have is the evidence-based authorization and prior authorizations. Because it’s very new, the challenge from the payers’ perspective is having that evidence. For practitioners and providers, the key thing is to take advantage of our peer-to-peers. When you have your peer-to-peer, you can talk directly with the medical director who is reviewing the case. Then you can explain some of the challenges. That’s a very underused option that many providers have. If you talk to the medical directors who are reviewing the case directly and explain the predicament with them, that’s a good way to get some movement, particularly on the payer side. Express to them that it’s a very new technology, this illness can be very debilitating, the importance of acting early, and the level of resources necessary.
Dennis Scanlon, PhD: Great.
Emma Ciafaloni, MD: Can I have a quick comment about this? As a clinician in the trenches, I have 2 asks for the payers. First, when you develop your policies about these very new disease-modifying therapies in rare diseases, please have an expert in SMA sitting at that table to assist in the policy writing. Don’t get people who might have seen just 1 or 2 cases of SMA. Try to get the best expert at that table. Second, the policy that you write today might change in 6 months as we acquire more data and knowledge, so please keep an open mind and keep reexamining this issue because the learning is very fast and very steep.
Transcript edited for clarity.