Newly approved and investigational therapies designed to address the underlying pathophysiology of spinal muscular atrophy (SMA) requires that neurologists accurately diagnose SMA in a timely manner and are prepared to utilize new therapeutic approaches. The goal of this study was to obtain a better understanding of the gaps in knowledge, competence, and practice patterns of pediatricians regarding the pathophysiology, diagnosis, and management of SMA.
A continuing medical education (CME)-certified clinical practice assessment survey consisting of 25 multiple-choice questions on knowledge, clinical preferences, and competence was made available to neurologists in the United States without monetary compensation or charge. The questions were based on clinical trials, guidelines, and expert faculty recommendations regarding the pathophysiology, diagnosis, and management of SMA. The survey posted on the Medscape Education website on July 26, 2017, and responses were collected through August 27, 2017. Respondent confidentiality was maintained and responses were de-identified and aggregated prior to analyses.
85 neurologists and 128 pediatricians completed the survey during the study period. Responders lacked confidence in managing children with SMA (66% of neurologists and 70% of pediatricians). Fewer than 50% of clinicians correctly identified why functional SMN2 is not able to completely compensate for SMN1 lack of function or the main factor influencing the severity of SMA expression. 30% of neurologists and 40% of pediatricians were not aware that genetic testing is the most accurate approach for diagnosing the disease. Regarding treatment, approximately two- thirds of clinicians incorrectly identified the primary method for airway clearance in SMA, 48% neurologists and 59% of pediatricians did not know the route of administration for nusinersin, and approximately two third of clinicians incorrectly identified the mechanism of action of AVXS-101.
This research yielded important insights into current clinical knowledge gaps of neurologists and pediatricians regarding the pathophysiology, diagnosis, management, and awareness of investigational therapies in SMA. The results indicated a need for education on these topics in SMA.