Introduction Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder associated with marked neurological dysfunction. TOSCA has been designed to address knowledge gaps in the natural history and management of TSC.
Methods TOSCA is a multicentre, international disease registry to assess manifestations, interventions, and outcomes in patients with TSC. Patients of any age diagnosed with TSC, with a documented visit for TSC within preceding 12 months or newly diagnosed individuals are eligible. Objectives include mapping the course of TSC manifestations and their prognostic role, identifying patients with rare symptoms and co-morbidities, recording interventions and their outcomes, contributing to creation of an evidence-base for disease assessment and therapy, informing further research on TSC, and evaluating the quality of life in patients with TSC. TOSCA includes a ‘core’ section to record general mandatory information on patients’ backgrounds and subsections/‘petals’ to record additional data related to specific disease manifestations. Estimated enrolment is approximately 2000 patients from about 250 sites in over 30 countries. An initial enrolment period of about 24 months and a follow-up observation period of up to 5 years is planned.
Current Status A planned administrative analysis was performed on ‘core’ data from first 100 patients, to evaluate feasibility of the registry. Results showed a high degree of accuracy of the data collection procedure. Annual interim analyses are scheduled.
Implications Results will help in planning better management and surveillance strategies. This large-scale international registry to study TSC could serve as a model to plan similar registries for other rare diseases.