Optimizing Treatment Access in SMA: Navigating Timing and Outcomes

EP: 1.Key Updates in SMA Diagnosis: What Clinicians Should Know

EP: 2.Evolving Best Practices: Data Behind the New SMA Guidelines

EP: 3.Newborn Screening for SMA: Clinical Recommendations and Considerations

Now Viewing

EP: 4.Optimizing Treatment Access in SMA: Navigating Timing and Outcomes

EP: 5.Adult-Onset SMA: Diagnosis and Best Practices for Clinicians

EP: 6.Beyond the Guidelines: Monitoring and Defining SMA Progression

Spinal muscular atrophy (SMA) linked to chromosome 5q is an autosomal recessive disorder caused primarily by biallelic variants in the survival motor neuron 1 (SMN1) gene affecting approximately 1 in 15,000 live births. The first publication on SMA standards of care was developed in 2007 and later updated in 2018 by convening an International Conference of SMA experts. Through that, 2 publications were produced and globally distributed.

Years later, the field has significantly changed, with 3 new SMN-enhancing treatments—nusinersen (Spinraza®, Biogen), onasemnogene abeparvovec-xioi (Zolgensma®, Novartis), and risdiplam (Evrysdi®, Genentech)—at clinicians’ disposal. Ultimately, the approval of nusinersen and successful SMA newborn screening pilot programs helped facilitate implementation of SMA newborn screening, which resulted in dramatic change in SMA natural history.

The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening led the urgency to update the SMA best practice recommendations for diagnosis, which were published a few short months ago. These recommendations, led by an SMA working group of American and European health care providers, stress that SMA newborn screening is essential to towards getting an accurate diagnosis for patients. In the paper, the group provided recommendations for characterizing newborn screening-identified infants before treatment; minimum recommendations for starting or offering SMA newborn in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA newborn screening referrals; and recommendations for partnership with individuals with SMA and caregivers to support newborn screening-identified infants and their caregivers.

To better understand how these updates may impact SMA diagnosis and clinical care, NeurologyLive® convened a panel of experts who served as study authors on the recommendations. These included Mary Schroth, MD, FAAN, chief medical officer at Cure SMA and a pediatric pulmonologist; Kapil Arya, MD, a pediatric neurologist from Little Rock, Arkansas; Juan Francisco Vazquez Costa, MD, PhD, an adult neurologist who treats motor neuron diseases in Valencia, Spain.

In episode 4, the panel focused on the challenges and practicalities of diagnosing SMA, especially in the context of newborn screening programs. The neurologists emphasized the importance of efficient coordination between caregivers, primary care practitioners, and referral centers to ensure rapid confirmatory testing and early treatment initiation. In addition, the group discussed the complexities of insurance approvals in the US and how this differs in Spain, where regulatory and pricing issues lead to delayed availability of treatments. Overall, the core message underscored the critical need for collaboration between healthcare providers and families throughout the diagnostic and treatment journey to optimize outcomes for patients with SMA.

Timeline of Discussion:
0:00 - 1:30 – Kapil Arya, MD: The importance of an efficient and well-defined process for notifying caregivers and coordinating the first post-screening visit. Collaborative team approach in evaluating motor function, counseling parents, and facilitating quick access to treatment for SMA patients.
1:30 - 3:30 – Juan Francisco Vazquez Costa, MD, PhD: National protocol for SMA treatment in Spain and the role of hospital pharmacies in expediting access to treatments.Emphasizing the importance of efficient collaboration between physicians and pharmacists to prevent treatment delays.
3:30 - 4:00 – Mary Schroth, MD, FAAN: Differences in treatment approval processes in the U.S., discussing payer-specific re-approvals every six months and the challenges it brings.
4:00 - 4:45 – Juan Francisco Vazquez Costa, MD, PhD: Comparing the delayed availability of treatments in Spain due to regulatory issues and explaining how the process differs from the U.S.
4:45 - 5:45 – Mary Schroth, MD, FAAN: The critical role of patients and caregivers in the decision-making process, highlighting the importance of partnership throughout diagnosis and treatment.

Transcript edited for clarity.

Kapil Arya, MD: Our paper directly addresses this question and essentially emphasizes that there should be a very well-defined process of notifying the infant’s caregivers, as well as efficiently coordinating the initial visit, which should occur within days of the newborn screening result being published. This may or may not include confirmatory testing at the primary care office. A lot of centers prefer to do it at the referral center itself. At the referral center, there should be a collaborative team, not just to evaluate motor function, but also to counsel the parents appropriately on the risks and benefits of various disease-modifying therapies. This helps parents make informed decisions about the best treatment for their child. Lastly, the referral center should have an efficient process to determine insurance coverage and get the therapy to the child as quickly as possible so that treatment can begin as early as possible. Thank you.

Juan Francisco Vazquez Costa, MD, PhD: We have a national protocol for treating SMA patients, both children and adults, but the start of treatment won’t be delayed because of the protocol. Actually, it depends on the center. For example, in our center, I have very good contact with my pharmacy, so they provide the treatment as fast as possible once I identify a new patient with SMA. Afterward, they’ll review that all criteria are met and so on. It’s also important to involve the hospital pharmacy in this process, both in diagnosis and treatment initiation. It's important they know and trust us as physicians to avoid delays. If treatment approval requires pre-approval for each patient, there's always the chance that the person responsible for the approval is unavailable—sick or on vacation—which could delay the treatment. But that's not the case for us. We can directly communicate with the pharmacy to get pre-approval, and later, we input the patient’s data into the national system for review, but we can start treatment before final approval.

Mary Schroth, MD, FAAN: Thank you. It's very different in the U.S. here, where it's payer-specific. Every payer wants something slightly different, though they all require the basics—the SMN2 copy number and the current level of motor function. But then we have to get re-approvals every six months or so. Kapil, correct me if I’m wrong, but it is quite a laborious process, right?

Juan Francisco Vazquez Costa, MD, PhD: Treatments are approved and available in the U.S. one or two years before they come to Spain, mostly due to regulatory and pricing issues, which are managed at the national level. This means treatment arrives later for us, but once approved and commercialized, it’s easier for us. You don’t have to negotiate on an individual level. It's not like that here.

Mary Schroth, MD, FAAN: I want to go back to the recommendations—this recommendation is woven throughout our paper. It’s so critically important that individuals with SMA and their caregivers are essential partners in this process. They have to be involved at all levels—diagnosis, care, and treatment decision-making. We don’t have all the answers yet about SMA, treatments, and outcomes, so communication and partnership between healthcare providers, patients, and families are just so important. At the core of all this work is that collaboration with patients and their families.