Prevalence of Fabry Disease in Chronic Kidney Disease Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study Protocol

Background: Fabry disease (FD) is a form of lysosomal storage disorders (LSDs) that occurs due to reduction in α-galactosidase A (α-Gal A) activity which leads to accumulation of glycolipids in different body tissues. More than 25% of FD patients have chronic kidney disease (CKD) that eventually progresses to end-stage renal disease (ESRD). Renal biopsy is the gold standard of ESRD diagnosis; however, it is not performed in most cases. Since undiagnosed FD cases can be discovered in ESRD patients, we are conducting this multicenter, cross-sectional study to detect the prevalence of FD in the high-risk group (male patients with CKD stage 3–4 of unknown cause) in Saudi Arabia. Methods: This cross-sectional, multicenter screening study will include male patients with unknown cause CKD (stage 3 or 4) with comorbid conditions. A total of 580 patients or more will be included from different hospitals with specialty care centers for nephrology across Saudi Arabia from September 2019 to March 2021. Each patient will be assessed for the fulfillment of the eligibility criteria prior to inclusion. All eligible patients will be assessed by renal function parameters (including albumin creatinine ratio and estimated glomerular filtration rate), left ventricular mass thickness, and enzymatic activity by the dried blood spot testing. Results: This protocol will be submitted for approval by the responsible ethics committee of the participating centers prior to patients’ inclusion. We expect to collect data from 580 patients or more as determined by our sample size calculation. Discussion: The early introduction of enzyme replacement therapy has lessened the disease severity, risk of heart failure, and preserved renal functions. Early diagnosis of FD is a challenging process due to its rare presentation and multisystem affection nature. The incidence of FD in Saudi Arabia is higher than in many other countries in the Arab world and Europe. Also, published data about FD prevalence, comorbidities, and outcomes are very scarce in the literature.