1
Natural history
Characterize disease onset, presentation, progression, organ involvement, and major clinical events.
2
Clinical variability
Understand heterogeneity by sex, age, phenotype, geography, treatment status, and other factors.
3
Long-term outcomes
Evaluate longitudinal patterns and treatment-related outcomes in routine clinical practice.
4
Patient care resources
Support structured follow-up and shared learning through recommended assessment schedules and reports.
5
Research questions
Enable analyses that are difficult in small cohorts because Fabry disease is rare and clinically diverse.
6
Global collaboration
Pool standardized observations from multiple countries while respecting local requirements.
Why registries matter in rare disease
Randomized trials answer focused questions over defined periods. Observational registries complement them by following broader populations and routine care over longer periods.
“A collective resource to help optimize outcomes” was the theme used in historical Registry assessment materials.