Crystal Proud, MD, on Improving Newborn Screening for Spinal Muscular Atrophy

This interview originally appeared on our sister site, NeurologyLive.

"The goal would be to treat as soon as possible... every day that a child with SMA goes untreated is a day where we could potentially be losing very valuable motor neurons."

Spinal Muscular Atrophy (SMA) Awareness Month is observed annually in August by the patient and clinician communities with the intent of bringing more attention to the genetic disorder, which affects motor neurons in the spinal cord and leads to muscle wasting and weakness. SMA Awareness Month came into being thanks to the work of advocacy groups, with Cure SMA playing a particularly important role, and is intended to help support research and promote early diagnosis and treatment, in addition to bringing more attention to SMA in general, which is considered one of the most common rare diseases, affecting as many as 10,000 to 25,000 children and adults in the United States.

Notably, an FDA-approved gene therapy product, onasemnogene abeparvovec (Zolgensma; Novartis), is available for the treatment of SMA. An adeno-associated virus vector (AAV)-based gene therapy, Zolgensma is 1 of several treatment options currently available for the disease, with others including nusinersen (Spinraza; Biogen), an SMN-enhancing therapy administered via lumbar puncture, and risdiplam (Evrysdi; Genentech), an orally administered SMN-enhancing medication for those aged 2 months and older with the disease. In general, treating patients as early as possible is thought to improve outcomes, and as such, routine newborn screening for the disease is critical.

During SMA Awareness Month, CGTLive®'s sister site NeurologyLive® sat down with Crystal Proud, MD, the director of neurology and neuromuscular medicine at the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, to discuss aspects of awareness for the disease that have improved over the years, particularly in newborn screening. In addition to summarizing the progress made, she stressed the continued efforts needed to enhance the screening process, and pivotal research initiatives going forward. Proud also spoke on some of the inconsistencies with the post-screening process and the ways to efficiently ensure access to novel, disease-modifying treatments.