Scoping Review Maps DHTs for Lysosomal Disorders

On April 2, 2026, researchers published a scoping review mapping digital health technologies (DHTs) for lysosomal storage disorders, screening 1,751 records and including 245 studies. They identified 40 AI-driven, 89 connected-care, and 144 other DHT records, with evidence concentrated in Gaucher and Fabry diseases and focused on diagnosis and health-care delivery outcomes. Authors recommend interoperable data, multicenter evaluations, and transparent algorithm reporting.
Key Points
- 1Mapped 245 studies, identifying 40 AI, 89 connected-care, and 144 other DHT records.
- 2Evidence concentrates on Gaucher and Fabry diseases and diagnosis, limiting generalizability across LSDs.
- 3Prioritize interoperable data, multicenter prospective evaluations, transparent algorithms, and implementation-relevant outcomes.
Scoring Rationale
This peer-reviewed scoping review is novel and credible, providing a broad, systematic map of DHT evidence for lysosomal disorders. It scores highly for novelty, credibility, and relevance to practitioners, but is moderated by heterogeneous, mostly observational evidence and descriptive findings rather than causal evaluations.
Sources
Public references used for this report.
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