Fabry Disease Screening and Registry Framework (FDSRF) in Saudi Arabia: Rationale, Design and Implementation

Abstract Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by progressive multi-organ involvement and substantial underdiagnosis. In Saudi Arabia, epidemiological data remain limited, and no national registry currently exists. Objective To describe the rationale, design, and implementation of a national multicenter initiative integrating targeted screening with the development of a structured Fabry disease registry. Methods This is a national, multicenter, non-interventional observational study incorporating prospective and retrospective data collection. The study targets predefined high-risk cohorts, including renal (CKD stage 4–5, hemodialysis, peritoneal dialysis, and kidney transplant recipients), cardiac (unexplained cardiomyopathy/LVH/HCM), neurological (premature or cryptogenic stroke in young adults), and family-based cascade screening. A tiered diagnostic algorithm utilizing α-galactosidase A activity, lyso-Gb3, and GLA sequencing is implemented. Data are captured through a centralized REDCap-based registry. Results Following IRB approval, implementation has commenced across participating tertiary centers in Saudi Arabia, with ongoing expansion and integration into a centralized registry system. Conclusion This initiative provides a scalable framework for establishing a national Fabry disease registry and improving early diagnosis, longitudinal follow-up, and precision medicine implementation in Saudi Arabia.