Key opinion leaders in SMA emphasize the importance of a multidisciplinary approach and centers of excellence in the early diagnosis and treatment of spinal muscular atrophy.
Dennis Scanlon, PhD: I want to touch on these issues, including the multidisciplinary nature of treatment, with a little more detail. But before we do, I want to stick with the theme of the importance of early diagnosis. Dr Stephens, and I will open it up to others as well, talk a little about how to make that happen. Obviously, there’s the education that Cure SMA is doing. But from a payer perspective, what are you seeing in terms of achieving that goal of early detection and diagnosis so treatment can start earlier? It’s my understanding that the outcomes can be significantly improved if that does happen.
Kevin U. Stephens, Sr., MD, JD: Of course, thank you. And thank you for this opportunity. This is great to inform and get a lot of information out there. One of the things that’s very important is that you have to make the diagnosis early, the sooner the better. When you make the early diagnosis, the wraparound services that are associated with the diagnosis should follow immediately. It’s tough on the parents and community when you have a child with SMA [spinal muscular atrophy]. Having these wraparound services available to support is important, whether it’s physical therapy, occupational therapy, speech therapy when it’s appropriate, as well as having the parents understand the process. Half of the problem is getting the parents to get their arms and grip around what this illness is and how we can help them manage through it. It’s a game-changer for most families. It changes your whole life, how you manage, and so it’s important to make the diagnosis early and get these support services available to the family to help them cope with how they can help this child.
And then of course, early treatment is important. We know that if you wait too late, the mortality rate is significant. If you start earlier, you can prevent some of the sequelae, the contractions and so forth, and you can help them have a more productive life. As we said earlier, mentally, these children are bright-eyed. It’s not the brain that’s the problem, it’s the neurons. It’s very important that we intervene in terms of getting all these wraparound things together, because that can help their development and foster the relationship between the child, mother, and the providers. It can be traumatic for the providers because many times the diagnosis is delayed because the providers may not be as aggressive as they could or should be. From the payer perspective, the sooner the better, because the hospitalizations will increase, the emergency department utilization will increase, and all these other comorbidities can come, including physical things like skin breakdown. The earlier, the quicker, the better for everyone.
Dennis Scanlon, PhD: Dr Lopes, following up on that, we’ve heard a number of terms so far in this session: wraparound services, it takes a village, and multidisciplinary approach. Many would say that’s not necessarily what the United States health care system has traditionally been best at in terms of coordination, multidisciplinary interaction, and taking this approach. From a payer perspective and also from the multiple hats you’ve worn throughout your career, how does that happen? Dr Stephens and others have indicated its importance, but in reality, what are some keys to actually making that happen? What are the keys to not only early detection and diagnosis, but then understanding how multiple different services and skills can be brought to the patient? We’ll talk later about specific pharmacotherapy options. But this is rare, it’s severe, and it’s costly. From your perspective, what is the best way of making this happen?
Maria Lopes, MD, MS: Absolutely. And also, thank you for having me. This panel provides such expertise. I’m very privileged to be a part of the group here.
From a payer perspective, it has to start with education and awareness. Newborn screening now adds another dimension in terms of early identification. The earlier you initiate treatment, the better. It matters. Other things that matter in terms of the expertise are centers of excellence that have protocols, that have the ability to support patients and their families, a multidisciplinary approach around the therapies, and that may be tracking data, which is critically important to hopefully find patterns around better outcomes and how we can optimize care and what that may look like. It’s perhaps a more consistent approach to the management.
As a payer, when we think about centers of excellence, it’s important that we understand who they are, where they are, and are able to contract effectively so that we’re minimizing barriers to access. Even through case management, being able to identify where these centers are helps so that upon a diagnosis, patients or families can be readily referred. I totally agree that there has to be so much support, not just for the child, but potentially for the family. We live in a complex world with benefit designs and high deductibles, and so this level of support extends not just for the treatments that are available, but also to help navigate a complex health care system, patient out-of-pocket costs, and financial issues. Some of these patients’ families may even lose their jobs in the process. Taking care of a child like this is a full-time job. The level of support that you’re getting from a center of excellence, and the more we speak about very complex therapies, sequencing, gene therapy, the greater the need to make sure that the process starts with a center of excellence that can be overseeing the process, collecting the data, and able to effectively manage the care.
Dennis Scanlon, PhD: Thanks. Before we move on and talk about some of the specific treatments, Dr Ciafaloni and Dr Schroth, do you have any thoughts on the center of excellence concept? I know in health care, that is a sometimes-challenging situation because there’s a balance between geographic proximity and accessibility on the part of the patient and the family member to what might amount to fewer places for treatment. On the other hand, as Dr Lopes said, there can be quite a bit of value to having the expertise, treating a large number of patients, and benefiting from the data and research. It’s always a trade-off, but I wanted to give each of you an opportunity to comment on that if you’d like.
Mary Schroth, MD, FAAP, FCCP: Cure SMA as an organization has invested in improving the standard of care for spinal muscular atrophy, and the way that we’re going about that is by having a network of centers, the SMA Care Center Network, which we are gradually adding on to. These centers help us collect data on patients. We’re using the electronic medical record to gather data. That data are packaged at the center and then electronically transferred to our SMA clinical data registry platform. We’re utilizing that data to better understand the SMA community, the health care that’s being delivered, where it’s being delivered, and where the patients are that they’re providing care to. We have an investment in collecting real-world evidence regarding how these treatments are being utilized as well as outcomes. The goal is to improve standard of care, have an evidence-based standard of care, and then to push that standard of care out to every center that is delivering care to individuals with spinal muscular atrophy. We think this is so important for this rare disorder.
One of the issues that we’ve seen is that the diagnostic delay also occurs because people have never heard of SMA. For families, the issue is that they’ve never heard of SMA until a family member, a friend, or someone in their community is affected. This is relevant with even general pediatricians. Most pediatricians do not have someone with SMA in their practice, so they don’t have the familiarity that would expedite the diagnosis. Dr Ciafaloni’s center is part of our care center network, and I’ll let her talk more about that.
Emma Ciafaloni, MD: Models for neuromuscular and many other neurological diseases—we have a model for cystic fibrosis, for example—have shown that a patient’s outcome and natural history is dramatically improved if a patient with a rare disease is treated in super-specialized centers. Obviously, we need to have a very careful balance between access and expertise. Patients with SMA are better served having a home in a highly specialized multidisciplinary clinic. That doesn’t mean that a clinic, if it’s geographically distant from where the patient lives, cannot work in collaboration with their home base doctors, like their pediatrician or pulmonologist. Especially now with telemedicine, which is booming and here to stay even after COVID-19, this collaboration can work extremely well. With the nuances and this incredibly steep learning curve in SMA, some of these decisions about treatment and care are better left to someone who does SMA as a primary clinical interest because it is a rare disease. Even a very good neurologist might have only seen a handful of cases of spinal muscular atrophy vs a center of excellence that follows hundreds of them. That doesn’t mean we cannot facilitate access and collaboration with home base doctors.
Transcript edited for clarity.