Canadian Inborn Errors of Immunity National Registry (CIEINR): A High-Quality Standardized Patient Data Platform to Support Patient Advocacy and Immune Deficiency Research

Introduction Inborn errors of immunity (IEIs) comprise a heterogeneous group of rare disorders, characterized by a wide spectrum of immunological alterations that influence the presentation and age at onset of disease. Approximately 30,000 Canadians suffer from primary immunodeficiency. Canada is home to several specific populations with a higher incidence of unique IEIs. Canada lacks a comprehensive database detailing the epidemiology, clinical and immunological phenotypes, and genotypes of patients with IEIs. We developed the novel and innovative Canadian Inborn Errors of Immunity National Registry (CIEINR), a machine-readable, high-quality dataset that promotes research through standardized data exchange and supports patient advocacy. Methods CIEINR was established by a national steering committee of 13 clinician scientists from 9 Canadian provinces, through monthly virtual meetings. Following a literature review of existing international IEI registries, the peer-reviewed study protocol, consent forms, and governance documents were developed. ImmUnity Canada, the national patient organization, was consulted to review the protocol. Ontology-based data collection forms were developed in collaboration with bioinformatics scientists to capture input data in a structured fashion. Regulatory documents and standardized data collection forms were harmonized with United States Immunodeficiency Network and European Society for Immunodeficiencies to support data sharing, methodological consistency, and interoperability. A continuous quality improvement framework aligns with the Canadian Drug Agency’s Best Practices and Standards to Enhance the Quality of Rare Disease Registries in Canada. Results The CIEINR has been established and includes 25 centers across Canada. Electronic clinical research forms in the Research Electronic Data Capture (REDCap) platform were successfully piloted including the embedded analytic tools such as RareLink and Phenopackets on patients’ data with variable forms of IEIs. Conclusion By collecting high-quality, precise, ontology-based patient data, the CIEINR will improve understanding of the Canadian IEI landscape, identify challenges and opportunities for patients and their healthcare providers, and support research and advocacy.