P.399The international spinal muscular atrophy (SMA) registry: longitudinal collection and refinement of outcome measures for spinal muscular atrophy

Abstract

The international Spinal muscular atrophy consortium (iSMAc) is an academic collaboration linking 3 national networks (Italy, United States, United Kingdom), focused on natural history in infants, children and adults affected by SMA. The three networks, originally funded by their national advocacy groups, have since 2015 contributed to the development of novel and SMA specific outcome measures used in natural history studies, allowing the definition of trajectories of SMA patients. Since 2017, the network has been collaborating with Biogen to capture, using a comprehensive electronic case report form (eCRF), the evolving history of SMA patients. The iSMAc registry is a prospective multicenter natural history study, linking previous retrospective data of the iSMAc network to the prospective data collection from SMA patients, both naïve or treated with nusinersen. Initial efforts focused on identifying data elements and creating a data dictionary. Detailed information on clinical features, supportive care, and functional measures, of hospitalization and other health related issues are captured in standardized eCRFs that allow the assessment of the impact of therapeutic intervention(s) on burden of disease and survival. Data are collected at regular clinical intervals, curated at the network level and entered into a registry database. Regular physiotherapy training sessions ensure quality control of the outcome measures studied. To date, baseline data on 735 SMA patients have been recorded in the registry, including SMA type 1 (182), type 2 (285), type 3 (262) and other forms (6), mostly in the pediatric age range (80%). The majority of patients (64%) are treated with nusinersen. Relevant data is shared on a quarterly basis with Biogen for surveillance of patients receiving nusinersen. Data from the iSMAc registry are contributing to the "real-world" assessment of the contemporary natural history and response to emerging therapies in a broadly based population of patients with SMA.