Assessment of Referral Patterns, Referral Barriers, and Diagnostic Patterns in Spinal Muscular Atrophy (SMA) Amongst Pediatricians

Objective: Cure SMA initiated a study to further understand referral patterns and barriers impacting the pediatric-specialty care interface that may contribute to existing diagnostic delays in spinal muscular atrophy (SMA). Diagnostic awareness of SMA was also assessed. The study is part of a broader effort by the Cure SMA Industry Collaboration to further understand diagnostic delays in SMA. Background: SMA is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggests that early treatment is critical to improving survival, modifying disease progression, and is expected to alter the phenotype. Methods: Cure SMA conducted a survey gauging referral patterns, referral barriers, and diagnostic patterns in SMA among pediatricians. It was distributed …