Raising Awareness for Spinal Muscular Atrophy and Improving Newborn Screening: Crystal Proud, MD

WATCH TIME: 4 minutes

"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."

Each August, those around the world come together to raise awareness for spinal muscular atrophy (SMA), a genetic disorder that affects motor neurons in the spinal cord, leading to muscle wasting and weakness. The initiative began as broader efforts by advocacy groups, particularly Cure SMA, to bring attention to the disease, support research, and promote early diagnosis and treatment. SMA has generally been believed to affect as many as 10,000 to 25,000 children and adults in the United States and is therefore considered one of the most common rare diseases.

The most common form of SMA is caused by changes in a gene known as the survival motor neuron gene 1 (SMN1). There are 5 types of this form of SMA, which are classified based on the average age of onset and severity of symptoms. To date, there are 3 approved therapies for SMA that preserve motor neurons, improve muscle function, and extend lives, but are not curative. These include nusinersen (Spinraza; Biogen), an SMN-enhancing therapy administered via lumbar puncture, onasemnogene abeparvovec-xioi (Zolgensma; Novartis), a gene therapy for those with infantile forms of the disease, and risdiplam (Evrysdi; Genentech), an orally administered SMN-enhancing medication for those aged 2 months and older with the disease.

During SMA Awareness Month, neurologist and community advocate Crystal Proud, MD, sat down 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, who serves as director of neurology and neuromuscular medicine at the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, spoke on some of the inconsistencies with the post-screening process and the ways to efficiently ensure access to novel, disease-modifying treatments.