TY - JOUR
T1 - The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
AU - Bassanese, Giulia
AU - Wlodkowski, Tanja
AU - Servais, Aude
AU - Heidet, Laurence
AU - Roccatello, Dario
AU - Emma, Francesco
AU - Levtchenko, Elena
AU - Ariceta, Gema
AU - Bacchetta, Justine
AU - Capasso, Giovambattista
AU - Jankauskiene, Augustina
AU - Miglinas, Marius
AU - Ferraro, Pietro Manuel
AU - Montini, Giovanni
AU - Oh, Jun
AU - Decramer, Stephane
AU - Levart, Tanja Kersnik
AU - Wetzels, Jack
AU - Cornelissen, Elisabeth
AU - Devuyst, Olivier
AU - Zurowska, Aleksandra
AU - Pape, Lars
AU - Buescher, Anja
AU - Haffner, Dieter
AU - Marcun Varda, Natasa
AU - Ghiggeri, Gian Marco
AU - Remuzzi, Giuseppe
AU - Konrad, Martin
AU - Longo, Germana
AU - Bockenhauer, Detlef
AU - Awan, Atif
AU - Andersone, Ilze
AU - Groothoff, Jaap W.
AU - Schaefer, Franz
N1 - Funding Information: We thank the members of the ERKReg helpdesk team, Ilse Rood, Magda Drozynska-Duklas, and Victor Perez-Beltran for faciliating the implementation of the registry. We appreciate the dedicated support of all local staff members involved in patient enrolment and documentation. Furthermore, we are indebted to Bernd Will, the programmer of the Website, and Heike Breitschwerdt from Heidelberg University Institute for Medical Biometry and Informatics for highly professional data quality control management. Finally, we most thankfully acknowledge the continued interest, trust and support of our patients and their families. The following investigators are contributing to the ERKReg Registry: Austria: A. Potemkima, K. Arbeiter, Vienna. Belgium: N. Demoulin, N. van Oost, O. Devuyst, Brussels. D. Mekahli, E. Levtchenko, K. Claes, M. van Dyck, Leuven. Funding Information: Open Access funding enabled and organized by Projekt DEAL. The ERKReg project was made possible by a European Union grant (Chafea #777303) within the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017–2021”. Additional support was received by ERKNet within the same framework. Further support for the development of the registry was kindly provided by the ERA-EDTA Workgroup for Inherited Kidney Diseases (WGIKD). Publisher Copyright: © 2021, The Author(s).
PY - 2021/12/1
Y1 - 2021/12/1
N2 - Background: The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient’s outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically. Results: Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases. Conclusions: ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes.
AB - Background: The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient’s outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically. Results: Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases. Conclusions: ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes.
KW - Epidemiology
KW - European Rare Kidney Disease Reference Network (ERKNet)
KW - Nephrology
KW - Pediatric nephrology
KW - Registry
UR - http://www.scopus.com/inward/record.url?scp=85107117271&partnerID=8YFLogxK
U2 - https://doi.org/10.1186/s13023-021-01872-8
DO - https://doi.org/10.1186/s13023-021-01872-8
M3 - Article
C2 - 34078418
SN - 1750-1172
VL - 16
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 251
ER -