Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy

Introduction: The availability of disease modifying therapies in Spinal Muscular Atrophy (SMA) has highlighted the need for more structured registries for collecting reliable information both in treated and untreated individuals. Regulators recommendations have recently become available suggesting how registries should be designed or adapted for different purposes. These include the study of disease epidemiology/natural history in untreated individuals or the assessment in a real world setting of post treatment long term efficacy and safety in much wider cohorts than those included in pivotal trials. We report the adaptation of an academic registry to a nationwide registry describing the different steps of the process. Methods: All Italian centres were asked to participate. The initial electronic case report form was adapted to be more compliant with recent regulators recommendations, including a more structured coding of adverse events. Training sessions were performed to guarantee data reliability. The governance system was also reviewed and integrated to optimize transparency, accuracy, and collaboration among stakeholders. Results: All centres agreed to be part of this effort and completed training sessions. A critical analysis of the performance of the registry shows a high compliance of the centres. Discussion: Our experience suggests that it is possible to keep the reliable structure of an academic registry even when enlarging the registry at national level and adopting a more structured approach in compliance with regulators recommendations. Such a registry can be a valuable source for research purposes and to inform decisions both in a clinical setting and at regulatory level.