The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

Abstract Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. main objectives of this core are to generate epidemiological information, identify current patient cohort clinical research, explore diagnostic and therapeutic management practices, monitor treatment performance patient’s outcomes. has modular design that allows integrate comprehensive disease-specific registries as extensions the database. diagnosis (Orphacode) information (clinical, imaging, histopathological, biochemical, immunological genetic) recorded. Anthropometric, function, outcome items informing set 61 key indicators (KPIs) obtained annually. Data quality is ensured by automated plausibility checks upon data entry regular offline database prompting queries. Centre KPI statistics benchmarking calculated automatically. Results Within first 24 months since its launch, 7607 were enrolled at 45 pediatric 12 specialized adult nephrology units from 21 countries. A disease had been in 97.1% these time enrolment. While 199 individual entities reported Orphacode, 50% could be classified 11, 80% 43 95% 92 codes. Two diagnoses assigned 6.5% patients; 5.9% suffered syndromic disease. Whereas glomerulopathies (54.8%) ciliopathies including autosomal dominant polycystic (ADPKD) (31.5%) predominant groups among adults, spectrum encompassed congenital anomalies urinary tract (CAKUT) (33.7%), (30.7%), (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), metabolic nephropathies (4.1%). Genetically confirmed 24% 12% patients, whereas biopsy 80.4% versus 38.5% glomerulopathy cases. Conclusions ERKReg rapidly growing source cohorts an innovative tool