Jacqueline Glascock of Cure SMA Discusses FDA-Approved SMA Treatments & Dissects Combination Therapy

SMA, a rare genetic neurodegenerative disorder affecting approximately 1 in 10,000 newborns, is typically fatal for untreated children by age two. However, the approval of disease-modifying medications have transformed the treatment landscape.

Risdiplam is an oral small molecule treatment that impacts both the central nervous system and peripheral tissues. Patients receive the medicine daily in liquid form either by feeding tube or by mouth. The drug was first approved by the FDA in 2020 for patients as young as two-months old.

According to a study published in JAMA Pediatrics, screening newborns for spinal muscular atrophy (SMA) and starting treatment immediately can significantly improve health outcomes compared to infants who are diagnosed and begin treatment months later.

Early treatment helps improve the efficacy of treatment of spinal muscular atrophy, according to a comprehensive review article published earlier this month.

In this diagnostic proof-of-concept trial, an emerging imaging approach that uses a handheld laser demonstrated the ability to visualize muscle degeneration in children with SMA.

A new study suggests clinicians might be able to use metabolic “fingerprints” to better understand the likely severity of individual cases.