Addressing the Unmet Needs of Adults With Spinal Muscular Atrophy

The treatment era in spinal muscular atrophy (SMA), a rare autosomal recessive neuromuscular disorder caused by biallelic variants in the survival motor neuron 1 (SMN1) gene, is approaching its tenth year. Nusinersen (Spinraza; Biogen) was approved in December 2016,¹ followed by onasemnogene abeparvovec (Zolgensma; Novartis) and risdiplam (Evrysdi; Roche),² and in November 2025 the FDA approved an intrathecal formulation of onasemnogene abeparvovec (Itvisma) for patients aged 2 years and older, extending gene therapy to adults for the first time.³

The pivotal trials supporting those approvals were conducted largely in pediatric populations, and the functional measures used to assess response were developed for children. Clinicians treating adults are therefore applying therapies whose benefit is well established in principle, using instruments that may not capture it, in patients whose baseline weakness has often accumulated over decades. That mismatch shapes nearly every decision in adult SMA care, from whether a treatment is working to when it should be changed.

Senda Ajroud-Driss, MD, is the Les Turner ALS Foundation / Herbert C. Wenske Professor and professor of neurology in the division of neuromuscular disease at Northwestern Medicine, where she directs the Muscular Dystrophy Association Clinic, the ALS Clinic, and the neuromuscular fellowship program. In recognition of SMA Awareness Month, held annually throughout August, NeurologyLive^® spoke with Ajroud-Driss about how her adult clinic is structured and why she believes the need for multidisciplinary care has increased rather than decreased in the treatment era.

She also discussed what disease-modifying therapy (DMT) has and has not changed for adults, the outcome measures she considers inadequate for the population she treats, and the open questions around combination therapy and switching. In addition, Ajroud-Driss addressed access, reimbursement, treatment burden, and the diagnostic lag that still precedes many SMA diagnoses.

NeurologyLive: What does an effective multidisciplinary care team look like for a patient with SMA at your center?

Senda Ajroud-Driss, MD: In our adult MDA clinic, our multidisciplinary team that takes care of patients with SMA is made up of a neurologist, of course, for treatment, prescription, and follow-up. A pulmonologist, as these patients have respiratory muscle weakness and have respiratory needs. A dietitian for the nutritional support. An occupational therapist and a physical therapist to optimize function and make sure patients maintain independence as much as possible. And a speech and language pathologist who will evaluate swallow and language. Of course, we have a care coordinator who makes sure that all these specialties work like a nice team, in complete cohesion.

The care of SMA has been transformed lately with these DMTs that had a nice effect on the strength and the long-term outcome of these patients. However, the adult population specifically continues to have multidisciplinary needs.

How have DMTs changed the landscape of care, and what unmet needs remain among adults compared with the pediatric population?

The DMTs have transformed the care of the SMA population. It is incredible that just in 10 years we have 4 medications that really have a significant impact on this disease. The impact is most obvious in the pediatric population. In the adult, it’s a little bit more nuanced. Although many studies have proven that these DMTs have a clinical benefit, a significant clinical benefit, it is a little bit difficult to see it in patients who have been using a wheelchair or disabled for a very long period of time with significant weakness.

We do see that our patients don’t get sick very often, and if they get sick, they don’t need to be admitted and be in an intensive care unit, which is amazing. We do see some improvement in fatigue and in muscle strength. However, the outcome measures we use in the adult population are not sensitive enough to the clinical benefit that these patients might have. Therefore, the need for multidisciplinary care is more now than ever.

We really want to make sure that our patients are seeing occupational therapy and physical therapy, when before we were really focusing on adaptation to decline. Now we want to really optimize function as much as we can, and really capitalize on the little functional gain that they get with the treatment.

The other thing is that DMTs have not changed swallowing and nutrition. Although they did stabilize the respiratory muscle weakness, the need for pulmonary and for respiratory support is still there. The need for nutritional support is still there. So more than ever, really. One benefit of DMT is that our SMA patients are coming to our multidisciplinary clinic more regularly than they did before, because now they see the benefit and the importance of monitoring their progression, and really addressing all the other things that DMT, unfortunately, is not really improving yet.

Where do the largest gaps remain in treating adults with SMA?

Unfortunately, many unmet needs remain in the care of the SMA patient. Transition from pediatric to adult care is not done seamlessly. Unfortunately, in all the centers, we still have a lot of work to do in that regard.

All the studies of DMT were done in patients usually less than 18 years of age. The true effect in the adult population, and how to monitor and how to decide if the treatment is effective and when to switch therapy, is still a difficulty for us as adult physicians taking care of patients with SMA. Should we combine therapy? We don’t know. Gene therapy has been approved recently in the adult, but it’s not clear how to implement it, or how to follow and when to expect response in the adult population. Again, the outcome measures we use in the adult population are really pediatric outcome measures. So we don’t have good outcome measures for the adult population.

What about access and the practical burden on patients?

This multidisciplinary care is done in a few clinics across the country, so access to these clinics is difficult. Patients have to travel far. Telehealth has helped tremendously, but we still have, for insurance purposes, to see the patient in person and to do measurements to continue to approve their therapy. Reimbursement for multidisciplinary care is not at the level we need to compensate for all that.

There is tremendous burden of treatment on these patients. So having an amazing care coordinator who could look at all these little things and make sure that the patient knows exactly what they’re expected to do, what follow-up they need to do. The more integrated it is, the easier it is on our patients. Working with our pediatric colleagues, who’ve learned so much and have seen firsthand the effect of these treatments on the patients, is important. Integrating mental health is also important. These adults, they do have work. They have very full social lives. So we need to make sure we keep them as independent as possible, and we support them in this journey as much as we can. Support groups, sometimes peer support groups, could be helpful.

It’s an amazing time in the SMA landscape. I have goosebumps every time I see a patient because 10 years ago there would be nothing to do for them except supportive treatment. But now the outcome is completely different.

Why does awareness of SMA in the clinic matter for neurologists, and do you have any closing remarks on the multidisciplinary care team?

Awareness is very important. There still is diagnostic lag, unfortunately, so it’s very important to think about SMA and send the genetic test. It’s not difficult to diagnose. Genetic counseling is also important for the families of patients who have SMA.

These are difficult patients with multiple issues to handle, so it’s very difficult for one physician to be able to take care of all the little things. A team approach is the best way to really do it, in one place, under one roof, what we call a one-stop shop. The patient comes in from far, spends some time, and every little need is addressed, and hopefully they have the tools to go into the community and do what they need to do, and not think about their disease for the next 6 months. It’s difficult, because they still have to take their medication and come to their appointments, but at least they are equipped with how best to handle it until the next appointment comes up.

Transcript edited for clarity. For more perspectives on the multidisciplinary care approach in SMA, click here to read our previous Q&A in this series.

REFERENCES
1. U.S. FDA Approves Biogen’s SPINRAZA™ (nusinersen), The First Treatment for Spinal Muscular Atrophy. News release. Biogen. December 23, 2016. Accessed August 10, 2026. https://investors.biogen.com/news-releases/news-release-details/us-fda-approves-biogens-spinrazatm-nusinersen-first-treatment
2. FDA Approves Genentech’s Evrysdi Tablet as First and Only Tablet for Spinal Muscular Atrophy (SMA). News release. Genentech. February 12, 2025. Accessed August 10, 2026. https://www.businesswire.com/news/home/20250210728175/en/FDA-Approves-Genentech%E2%80%99s-Evrysdi-Tablet-as-First-and-Only-Tablet-for-Spinal-Muscular-Atrophy-SMA
3. Novartis receives FDA approval for Itvisma®, the only gene replacement therapy for children two years and older, teens, and adults with spinal muscular atrophy (SMA). News release. Novartis. November 24, 2025. Accessed August 10, 2026. https://www.novartis.com/news/media-releases/novartis-receives-fda-approval-itvisma-only-gene-replacement-therapy-children-two-years-and-older-teens-and-adults-spinal-muscular-atrophy-sma