SMA Awareness, Screening, Referral Patterns Addressed in New Manuscript From Cure SMA
The manuscript was published in the May 2021 issues of BMC Pediatrics.
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In a May 2021 issue of BMC Pediatrics, Cure SMA published a manuscript, titled “
One of Cure SMA’s key educational goals is to reduce diagnostic delays in SMA. Clinical trial data suggests early treatment, especially when administered presymptomatically, improves outcomes and survival for kids with SMA. However, symptomatic diagnosis of SMA Type 1 is not occurring until the mean age of 6.3 months, while children and adolescents with SMA Types 2 and 3—where symptoms may take years to present—frequently experience even greater delays.
The 2018 and 2019 pediatrician surveys offered insight into current clinical knowledge gaps and potential contributors to delayed diagnosis of SMA. Data analysis revealed a decrease in awareness amongst those surveyed regarding the diagnostic requirements for SMA, with 45% of pediatricians choosing genetic testing in 2019 vs 52% in 2018 (TABLE 1).
Additionally, there was a varied response amongst providers upon observation of hypotonia, or decreased muscle tone, a common symptom in SMA. Although 52% of respondents indicated they would immediately refer to a pediatric neurologist for further evaluation, 55.3% stated they would refer to early intervention programs, while another 14.0% would ‘wait and see’ or evaluate at the next scheduled wellness visit. The 2019 survey also explored average wait times for first appointment with neurologists. More than 64% of respondents noted wait times of 1 to 6 months for specialist visits within their region (FIGURE 1). When asked to identify perceived contributors to average wait time, respondents identified restrictions due to insurance, lack of triage at specialist offices, and lack of regional neurologists or child neurologists as top factors.
The diagnosis of SMA is a medical emergency. Universal
To enhance awareness, Cure SMA launched
This study was financially supported by the Cure SMA Industry Collaboration. At the time financial support was provided, members of the Collaboration included Biogen, Genentech/Roche Pharmaceuticals, Novartis Gene Therapies, Astellas Pharmaceuticals, Cytokinetics Inc., Novartis Pharmaceuticals, and Scholar Rock, Inc.
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