Diana Bharucha-Goebel, MD, and Bakri Elsheikh, MBBS, FRCP, on How New Therapies Are Changing SMA Care Guidelines

This video originally appeared on our sister site, NeurologyLive®.

The treatment landscape for SMA has shifted dramatically over the past decade. We now have three FDA-approved, disease-modifying therapies for SMA in children. On top of that, newborn screening is now available in all US states as of 2024. These advances have changed the way patients come into our care—whether it’s newborns, expectant families, or older individuals.

An autosomal recessive disorder, spinal muscular atrophy (SMA) is caused by mutations in both copies of the SMN1 gene on, which is found on chromosome 5q. It appears in about 1 in 15,000 live births. Carrier rates vary by ethnicity in the United States, from 1 in 47 for Whites to 1 in 72 for African Americans, with respective detection rates of 94.8% and 70.5%. Progressive muscle weakness and atrophy result from the dysfunction and irreversible loss of alpha motor neurons in the spinal cord and brainstem in patients with SMA.

Cure SMA, an advocacy group focused on pushing forward the care of patients with SMA, released a new best practices guideline earlier this year regarding decision-making for healthcare providers (HCP), patients, and caregivers in North American and Western Europe. CGTLive®'s sister site, NeurologyLive^® brought together study authors Diana Bharucha-Goebel, MD, a clinical neurophysiologist at Children’s National, and Bakri Elsheikh, MBBS, FRCP, a professor of neurology at The Ohio State University Wexner Medical Center, to help translate these recent updates.

In this episode, Bharucha-Goebel and Elsheikh spoke about the transformative changes in the treatment landscape for SMA over the past decade, including the advent of 3 FDA-approved disease-modifying therapies and the nationwide rollout of newborn screening in the US. They explain why an updated consensus on best practices was needed, highlighting how the group combined systematic literature review, international clinician input, and patient and caregiver perspectives to address the evolving care needs of SMA patients, from presymptomatic infants to older individuals.

Transcript edited for clarity. To visit the 2025 Cure SMA Update in Best Practices, click here.