Poster Number: 109


Mary Curry ND, Rosangel Cruz MA, Lisa Belter MPH, Mary Schroth MD, Jill Jarecki PhD


1. Cure SMA, 3. Cure SMA, 4. Cure SMA, 5. Cure SMA

Objective: The purpose of the study was to evaluate appointment wait time for initial referral, and current best practices to expedite and triage referrals across neurology and SMA care centers in the US, when spinal muscular atrophy (SMA) is suspected.

Background: SMA is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggests early treatment is critical to modifying disease progression and is expected to alter phenotype. Thus, early diagnosis is crucial.

Methods: Cure SMA distributed the survey from July 9, 2020 through August 31, 2020 via Medscape to neurologists, child neurologists, and neuromuscular specialists; 279 responses were obtained. Cure SMA also distributed the survey to providers affiliated with SMA care centers yielding 26 additional completers.

Results: 43% of the general cohort and 85% of the SMA care centers reported average wait time of 0 to 2 weeks for referrals evaluating ‘suspected SMA’. Additionally, 39% of the general cohort and 62% of the SMA care centers reported average wait time of 0 to 2 weeks for referrals evaluating ‘hypotonia & motor delays’ in infants. 85% of the general cohort and 100% of SMA care centers triaged incoming referrals. When evaluating triage methods, SMA care centers utilized ‘Centralized Call Center Staff’ (46%) and ‘Nurse Coordinators’ (38%) to prioritize appointments if key emergency words were included within the referral. 58% of physicians at SMA care centers and 44% within the general cohort reviewed incoming referrals and expedited urgent cases. Additional analysis revealed that amongst the general cohort, there was a 98.2% chance that infants with ‘hypotonia and motor delay’ would experience a 0 to 2 week vs 1 to 2 month wait time when the respondent indicated that at their site, the physician reviews referrals in advance and identifies any patients that may be urgent.

Conclusions: Appointment wait time when SMA was suspected was significantly less at SMA care centers compared to the general cohort (p= 0.004). Guidelines supporting the triage of referrals specific to hypotonia and motor delays may relieve wait time and support early diagnosis and treatment of SMA.

Funding for this research was provided by the SMA Industry Collaboration, Genentech/Roche, Novartis Gene Therapies, Biogen, Cytokinetics, and Scholar Rock.