Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Daniš, Ana Grönke, Miriam Hübner, Alexander Bartschke, Thomas Debertshäuser, Sophie Anne Inès Klopfenstein, Julian Saß, Julia Fleck, Mirko Rehberg, Jana Zschüntzsch, Elisabeth Nyoungui, Tatiana Kalashnikova, Luis Murguía-Favela, Beáta Dérfalvi, Nicola Wright, Shahida Moosa, Soichi Ogishima, Oliver Semler, Susanna Wiegand, Peter Kühnen, Chris Mungall, Melissa Haendel, Peter N. Robinson, Sylvia Thun, Oya Beyan
This study demonstrates the development and early multi-site implementation of a Research Electronic Data Capture-based framework for inborn errors of immunity. By enabling standardized integration of clinical, laboratory, and genetic data, the platform supports data quality, cross-site collaboration, and tracking of evolving diagnoses. It provides a scalable foundation for rare disease research and may support improved clinical decision-making.
While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native interoperability with global health standards, limiting secondary use. We developed RareLink, an open-source framework implementing our published ontology-based rare disease common data model. It enables standardised data exchange between REDCap, international registries, and downstream analysis tools by linking Global Alliance for Genomics and Health Phenopackets and Health Level 7 Fast Healthcare Interoperability Resources (FHIR) instances conforming to International Patient Summary and Genomics Reporting profiles. RareLink was developed in three phases across Germany, Canada, South Africa, and Japan for registry and data analysis purposes. We defined a simulated Kabuki syndrome cohort and demonstrated data export to Phenopackets and FHIR. RareLink can enhance the clinical utility of REDCap through its global applicability, supporting equitable rare disease research. Broader adoption and coordination with international entities are thus essential to realise its full potential.