In 2018, SMA standard of care (SOC) guidelines were published based on expert consensus work completed in 2016. Since 2016, the FDA has approved 3 gene modifying treatments for SMA. In 2018 SMA newborn screening was added to the Recommended Uniform Screening Panel facilitating pre-symptomatic diagnosis and early SMA treatment. These milestone events resulted in a rapid shift in SMA natural history and disease outcomes.

In 2018, neuromuscular clinics were invited to participate in the SMA CCN to achieve geographic and clinic size diversity. Clinic characteristics include capacity to provide FDA-approved SMA treatments, and electronic medical record (EMR) informatics team supportive of SMA CDR integration. Clinics goals include providing multidisciplinary SOC care and establishing pediatric and adult care team partners. Centers receive grants to integrate with the SMA CDR. Year 1 data included 2015 Common Clinical Dataset. Datasets are expanded annually. Patient data is electronically transferred via the Health Level Seven Fast Healthcare Interoperability Resources (FHIR) standard or via an HL7 consolidated clinical document architecture (CCDA). Centers access their patients' data through the SMA CDR portal.

Twenty centers completed contracting and IRB approval. Year 1: twelve centers achieved EMR integration and data transfer. Year 2: eighteen centers were integrated. The SMA CDR has 358 consented patients. Data gap analyses were shared with centers and the data manager to troubleshoot data transfer and optimize data quality.