Digital Health for Rare Diseases: A Scoping Review of Artificial Intelligence, Connected Care, and Enabling Digital Technologies for Lysosomal Storage Disorders (Preprint)

The evidence base is appreciable for a niche field and reflects growing interest in AI and CC for LSD care, but heterogeneity and methodological limitations preclude inferences on effectiveness or routine implementation. This evidence map highlights relatively stronger areas and clear gaps, providing a structured foundation to inform subsequent expert consensus-building and research prioritization. Key priorities include interoperable data infrastructures and data availability, prospective multicenter evaluations, transparent reporting of algorithms and workflows, and implementation-relevant outcomes to support safe, equitable, and scalable adoption aligned with evolving EU and global rare-disease priorities.