Clinical Burden of Spinal Muscular Atrophy

A multidisciplinary panel of experts discusses the clinical burden of spinal muscular atrophy on patients, families, and caregivers and considers the importance of patient education and advocacy.

Dennis Scanlon, PhD: Dr Lopes or Dr Stephens, I want to give you both the opportunity to comment here, both from your clinical background and also in the roles you play in your current positions. Is there anything you’d like to add on the treatment or diagnosis of this patient population, or needs?

Maria Lopes, MD, MS: Dr Ciafaloni spoke beautifully about that journey. It’s certainly very different for the 4 types. As a payer, you think about the morbidity and mortality associated with the disease by this multivariate genotype, but you also think about the resource use, office visits, durable medical equipment, hospitalizations related to a loss of respiratory function or the need for ventilatory support, and the consequences as you become more and more disabled. This becomes really important in terms of how we understand the value that extraordinary treatment is providing as we move along this journey, depending on patient severity.

Dennis Scanlon, PhD: Dr Stephens, is there anything you’d like to add?

Kevin U. Stephens, Sr., MD, JD: Yes, I can comment on a couple of things. Sometimes we forget about the caregiver. For parents, this can be a very traumatic experience when you have a child with floppy baby syndrome. They’re expecting a normal baby. We can’t forget about that. The other thing we have to think about is physical therapy. Many times, these children can have contractures and all kinds of complications. Having aggressive physical therapy and occupational therapy can help them so that they can avoid some of those complications, particularly in the long term. As we get further into the treatment, we can see that their life expectancy, which was previously very short, is now being extended thanks to new therapies out there. We have to start to think about the whole person and not just the caregiver. We also have to think about things like occupational therapy and physical therapy that can help those children, so that they can reduce some of the burden in terms of things like admissions and emergency department visits. This is a very interesting time we live in.

Dennis Scanlon, PhD: That’s a good transition to a question I wanted to ask you, Dr Schroth. Cure SMA, as I understand it, is an advocacy organization on behalf of patients and caregivers. It’s also heavily involved in education and research. Tell us a little bit about Cure SMA. Also, from your perspective, tell us about the burden of this disease, not only on the patient, but on families and caregivers as well, and what you’re doing to try to assist.

Mary Schroth, MD, FAAP, FCCP: Thank you for the invitation to participate in this panel. This is such a tremendous opportunity. Cure SMA is the largest patient advocacy organization focused on supporting patients and families impacted by spinal muscular atrophy [SMA]. We invest in research to identify new targets for new treatments. We also invest in improving care and supporting and educating families, health care providers, and researchers. The burden of SMA has been outlined by all of the previous panelists. One of the things that I want to point out is that SMA is the No. 1 genetic cause of death for children under the age of 2, and I’m talking about the natural history of SMA before any of these current treatments were available. The natural history is that everyone diagnosed with SMA develops progressive loss of motor function and weakness. As Dr Ciafaloni said, the babies with type 1 progress to having tremendous needs. They progress to developing respiratory failure and can progress to death. The average lifespan based on 2 different studies was 9 months in one and 13.5 months in another. This is a severe disease that is a devastating diagnosis for families. The burden from an emotional perspective begins at the time they observe symptoms. Then they are seeking answers. “Why does my child have this weakness or loss of function?” As Dr Ciafaloni eloquently stated, the diagnostic odyssey can be very challenging for families, but newborn screening is certainly helping with that particular aspect.

In addition, the medical needs and financial burden of being impacted by SMA cannot be understated. Multiple specialists are involved in order to optimize care for individuals impacted by SMA. There are multiple clinic visits and hospitalizations. Hospitalization rates are much greater compared to the normal population. There are equipment needs at home as well. Even after having 3 different treatmentsavailable, there are continued unmet needs in the SMA community. Those unmet needs are that these treatments do not help everyone. We’re learning. We’re in a state right now where we are learning how to best use these treatments, what the timing of the treatments should be, and whether they should be used in combinations. We have so many questions about how to best utilize these medications and therapies. In our older population who already have significant motor neuron loss, these treatments may have some benefit. We’re hopeful that there are other targets and therapies that could be developed that would continue to improve their function and help them gain independence. The goal for all of our individuals with SMA is that they maintain a healthy, independent lifestyle for as long as possible.

Dennis Scanlon, PhD: If I could follow up, you and Dr Ciafaloni talked about the importance of early diagnosis. As I was looking at your website, I noticed your SMArt Moves program and looked at a few of the videos. It sounds like you’re actively involved in trying to educate because, as I understand it from your material, part of that lag in identification may be on the clinical side in pediatrics and some other specialties, but also for patients and families, not understanding the potential for this diagnosis and the need to see somebody quickly. Is that correct?

Mary Schroth, MD, FAAP, FCCP: Absolutely. Thank you for shouting out SMArt Moves. SMArt Moves is an educational campaign targeted to families and primary care providers. It has multiple videos showing the symptoms of SMA to help people recognize it. That seems to be one of the barriers. These babies are bright-eyed and socially engaging. They look at you like a normal child because their brain is normal, but then you look at their extremities, and their legs aren’t moving or they’re frog-legged, and they’re not able to bring their hands up to their mouth. The health care provider community isn’t recognizing that this could be SMA. We’re working hard to decrease that delay in diagnosis.

Emma Ciafaloni, MD: Awareness for rare neurological diseases among primary care, pediatricians, and general neurologists is so important. There is an old attitude that, especially for rare diseases with no disease-modifying treatment, there is frequently no urgency in establishing a definite genetically based diagnosis.

To go back to the very important comment of Dr Stephens, even with the new disease-modifying treatments that are changing the natural history so dramatically, we cannot forget the multidisciplinary approach to care. We need good physical therapy and occupational therapy. It’s going to be a moving target of what the phenotype of this treated patient is going to be. The role of physical therapy and occupational therapy will be universally important no matter what, speech and swallow therapies, the effort to prevent scoliosis and contractures, etc. There is a whole village of experts involved in the best care. We know from SMA and other neuromuscular diseases that best multidisciplinary supportive care, especially very proactive pulmonary care, changes the morbidity, quality of life, and natural history of these diseases. You cannot forget about that piece. Now we’re going to add disease-modifying treatment. We are all learning so rapidly what’s going to be next. What Cure SMA and neuromuscular specialized clinics are doing is very important work.

Transcript edited for clarity.

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