OBJECTIVES: This study aims to describe the data structure and harmonisation process, explore data quality and define characteristics, treatment, and outcomes of patients across six federated antineutrophil cytoplasmic antibody-associated vasculitis (AAV) registries. METHODS: Through creation of the vasculitis-specific Findable, Accessible, Interoperable, Reusable, VASCulitis ontology, we harmonised the registries and enabled semantic interoperability. We assessed data quality across the domains of uniqueness, consistency, completeness and correctness. Aggregated data were retrieved using the semantic query language SPARQL Protocol and Resource Description Framework Query Language (SPARQL) and outcome rates were assessed through random effects meta-analysis. RESULTS: A total of 5282 cases of AAV were identified. Uniqueness and data-type consistency were 100% across all assessed variables. Completeness and correctness varied from 49%-100% to 60%-100%, respectively. There were 2754 (52.1%) cases classified as granulomatosis with polyangiitis (GPA), 1580 (29.9%) as microscopic polyangiitis and 937 (17.7%) as eosinophilic GPA. The pattern of organ involvement included: lung in 3281 (65.1%), ear-nose-throat in 2860 (56.7%) and kidney in 2534 (50.2%). Intravenous cyclophosphamide was used as remission induction therapy in 982 (50.7%), rituximab in 505 (17.7%) and pulsed intravenous glucocorticoid use was highly variable (11%-91%). Overall mortality and incidence rates of end-stage kidney disease were 28.8 (95% CI 19.7 to 42.2) and 24.8 (95% CI 19.7 to 31.1) per 1000 patient-years, respectively. CONCLUSIONS: In the largest reported AAV cohort-study, we federated patient registries using semantic web technologies and highlighted concerns about data quality. The comparison of patient characteristics, treatment and outcomes was hampered by heterogeneous recruitment settings.

1st Faculty of Medicine Charles University Prague Czech Republic

2nd Department of Internal Medicine Jagiellonian University Medical College Krakow Poland

ADAPT SFI Centre School of Computer Science and Statistics Trinity College Dublin Dublin Ireland

Clinical Sciences Rheumatology Lund University Lund Sweden

Clinical Trials Unit Medical Center University of Freiburg Faculty of Medicine Freiburg Germany

Department of Clinical Sciences Lund University Lund Sweden

Department of Endocrinology Nephrology and Rheumatology Skåne University Hospital Lund Sweden

Department of Mathematical Science University of Durham Durham UK

Department of Medicine University of Cambridge Cambridge UK

Department of Nephrology General University Hospital Prague Czech Republic

Department of Rheumatology and Clinical Immunology Universitat zu Lubeck Lubeck Germany

Division of Molecular Biology and Clinical Genetics Jagiellonian University Medical College Krakow Poland

French Vasculitis Study Group Paris France

General University Hospital Prague Praha Czech Republic

National Referral Center for Rare Systemic Autoimmune Diseases Hospital Cochin Paris France

Nephrology and Dialysis Unit Meyer Children's Hospital IRCCS Firenze Italy

School of Computer Science and Statistics Trinity College Dublin Dublin Ireland

School of Infection and Immunity University of Glasgow Glasgow UK

Telemedicine Technologies Liège Belgium

Trinity Kidney Centre Trinity Translational Medicine Institute Trinity College Dublin Dublin Ireland

Université Paris Cité Paris France

Zobrazit více v PubMed

Rathmann J, Segelmark M, Englund M, et al. . Stable incidence but increase in prevalence of ANCA-associated vasculitis in southern Sweden: a 23-year study. RMD Open 2023;9:e002949. 10.1136/rmdopen-2022-002949 PubMed DOI PMC

Sánchez Álamo B, Moi L, Bajema I, et al. . Long-term outcomes and prognostic factors for survival of patients with ANCA-associated vasculitis. Nephrol Dial Transplant 2023;38:1655–65. 10.1093/ndt/gfac320 PubMed DOI

Egan AC, Kronbichler A, Neumann I, et al. . The sound of interconnectivity; the European vasculitis society 2022 report. Kidney Int Rep 2022;7:1745–57. 10.1016/j.ekir.2022.05.018 PubMed DOI PMC

FAIRVASC: building registry interoperability to inform clinical care. 2023. Available: https://fairvasc.eu/ [Accessed 7 Jun 2023].

European joint programme for rare diseases. 2023. Available: https://www.ejprarediseases.org/ [Accessed 7 Jun 2023].

ADAPT . The FAIRVASC ontology revision: 2.00.000. 2023. Available: http://w3id.org/FAIRVASC

Wilkinson MD, Dumontier M, Aalbersberg IJJ, et al. . The FAIR guiding principles for scientific data management and stewardship. Sci Data 2016;3:160018. 10.1038/sdata.2016.18 PubMed DOI PMC

ADAPT . The Birmingham vasculitis activity score ontology. revision: 1.00.000. 2023. Available: http://w3id.org/BVAS

Kodra Y, Posada de la Paz M, Coi A, et al. . Data quality in rare diseases registries. Adv Exp Med Biol 2017;1031:149–64. 10.1007/978-3-319-67144-4_8 PubMed DOI

Kodra Y, Weinbach J, Posada-de-la-Paz M, et al. . Recommendations for improving the quality of rare disease registries. Int J Environ Res Public Health 2018;15:1644. 10.3390/ijerph15081644 PubMed DOI PMC

European Medicines Agency . Guideline on registry-based studies. 2021.

FAIRVASC FAIR data point. 2023. Available: https://fairvasc-fdp.adaptcentre.ie/ [Accessed 7 Jun 2023].

Reddy BP, Houlding B, Hederman L, et al. . Data linkage in medical science using the resource description framework: the AVERT model. HRB Open Res 2018;1:20. 10.12688/hrbopenres.12851.2 PubMed DOI PMC

Sernadela P, González-Castro L, Carta C, et al. . Linked registries: connecting rare diseases patient registries through a semantic web layer. Biomed Res Int 2017;2017:8327980. 10.1155/2017/8327980 PubMed DOI PMC

Hruskova Z, Jancova E, Lanska V, et al. . Characteristics and outcomes of patients with ANCA-associated vasculitis in the Czech population. La Presse Médicale 2013;42:664–5. 10.1016/j.lpm.2013.02.034 DOI

GFEV . Groupe Français D'Etude des vascularites. 2023. Available: https://www.vascularites.org/ [Accessed 7 Jun 2023].

Iking-Konert C, Wallmeier P, Arnold S, et al. . The joint vasculitis registry in German-speaking countries (Gevas) - a prospective, multicenter registry for the follow-up of long-term outcomes in vasculitis. BMC Rheumatol 2021;5:40. 10.1186/s41927-021-00206-2 PubMed DOI PMC

Padjas A, Sznajd J, Szczeklik W, et al. . Rare disease registries: an initiative to establish vasculitis registry in Poland. Pol Arch Med Wewn 2014;124:143–4. 10.20452/pamw.2146 PubMed DOI

Scott J, Nic An Ríogh E, Al Nokhatha S, et al. . ANCA-associated vasculitis in Ireland: a multi-centre national cohort study. HRB Open Res 2022;5:80. 10.12688/hrbopenres.13651.1 PubMed DOI PMC

Orphanet . Orphanet rare disease ontology (ORDO). 2023. Available: https://www.orphadata.com/ordo/ [Accessed 7 Jun 2023].

Rastegar-Mojarad M, Sohn S, Wang L, et al. . Need of informatics in designing interoperable clinical registries. Int J Med Inform 2017;108:78–84. 10.1016/j.ijmedinf.2017.10.004 PubMed DOI PMC

McGlinn K, Rutherford MA, Gisslander K, et al. . FAIRVASC: A semantic web approach to rare disease registry integration. Comput Biol Med 2022;145:105313. 10.1016/j.compbiomed.2022.105313 PubMed DOI

Aerts H, Kalra D, Sáez C, et al. . Quality of hospital electronic health record (EHR) data based on the International consortium for health outcomes measurement (ICHOM) in heart failure: pilot data quality assessment study. JMIR Med Inform 2021;9:e27842. 10.2196/27842 PubMed DOI PMC

Viechtbauer W. Conducting meta-analyses in R with the Metafor package. J Stat Softw 2010;36:1–48. 10.18637/jss.v036.i03 DOI

Nicholson N, Perego A. Interoperability of population-based patient registries. J Biomed Inform X 2020;6:100074. 10.1016/j.yjbinx.2020.100074 PubMed DOI PMC

Gainotti S, Torreri P, Wang CM, et al. . The RD-connect Registry & Biobank finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur J Hum Genet 2018;26:631–43. 10.1038/s41431-017-0085-z PubMed DOI PMC

European Joint Programme for Rare Diseases . What is the virtual platfrom? 2023. Available: https://www.ejprarediseases.org/what-is-the-virtual-platform/ [Accessed 7 Jun 2023].

Suppiah R, Mukhtyar C, Flossmann O, et al. . A cross-sectional study of the Birmingham vasculitis activity score version 3 in systemic vasculitis. Rheumatology (Oxford) 2011;50:899–905. 10.1093/rheumatology/keq400 PubMed DOI

The European Institute for innovation through health data 2022. I~HD Porto declaration on health data quality. 2022. Available: https://www.i-hd.eu/health-data-forum-2022/ihd-porto-declaration-on-health-data-quality-2022/ [Accessed 7 Jun 2023].

Jennette JC, Falk RJ, Andrassy K, et al. . Nomenclature of systemic vasculitides. Arthritis & Rheumatism 1994;37:187–92. 10.1002/art.1780370206 PubMed DOI

Weiner M, Goh SM, Mohammad AJ, et al. . Outcome and treatment of elderly patients with ANCA-associated vasculitis. Clin J Am Soc Nephrol 2015;10:1128–35. 10.2215/CJN.00480115 PubMed DOI PMC

Guillevin L, Pagnoux C, Karras A, et al. . Rituximab versus azathioprine for maintenance in ANCA-associated vasculitis. N Engl J Med 2014;371:1771–80. 10.1056/NEJMoa1404231 PubMed DOI

Stone JH, Merkel PA, Spiera R, et al. . Rituximab versus cyclophosphamide for ANCA-associated vasculitis. N Engl J Med 2010;363:221–32. 10.1056/NEJMoa0909905 PubMed DOI PMC

Jones RB, Furuta S, Tervaert JWC, et al. . Rituximab versus cyclophosphamide in ANCA-associated renal vasculitis: 2-year results of a randomised trial. Ann Rheum Dis 2015;74:1178–82. 10.1136/annrheumdis-2014-206404 PubMed DOI

Chanouzas D, McGregor JAG, Nightingale P, et al. . Intravenous pulse methylprednisolone for induction of remission in severe ANCA associated vasculitis: a multi-center retrospective cohort study. BMC Nephrol 2019;20:58. 10.1186/s12882-019-1226-0 PubMed DOI PMC

Hellmich B, Sanchez-Alamo B, Schirmer JH, et al. . EULAR recommendations for the management of ANCA-associated vasculitis: 2022 update. Ann Rheum Dis 2024;83:30–47. 10.1136/ard-2022-223764 PubMed DOI

Wallace ZS, Fu X, Harkness T, et al. . All-cause and cause-specific mortality in ANCA-associated vasculitis: overall and according to ANCA type. Rheumatology (Oxford) 2020;59:2308–15. 10.1093/rheumatology/kez589 PubMed DOI PMC

Berti A, Cornec D, Crowson CS, et al. . The epidemiology of antineutrophil cytoplasmic autoantibody-associated vasculitis in Olmsted County, Minnesota: a twenty-year US population-based study. Arthritis Rheumatol 2017;69:2338–50. 10.1002/art.40313 PubMed DOI PMC

Stuart EA, Bradshaw CP, Leaf PJ. Assessing the Generalizability of randomized trial results to target populations. Prev Sci 2015;16:475–85. 10.1007/s11121-014-0513-z PubMed DOI PMC

Rieke N, Hancox J, Li W, et al. . The future of digital health with federated learning. NPJ Digit Med 2020;3:119. 10.1038/s41746-020-00323-1 PubMed DOI PMC

Watts R, Lane S, Hanslik T, et al. . Development and validation of a consensus methodology for the classification of the ANCA-associated vasculitides and polyarteritis nodosa for epidemiological studies. Ann Rheum Dis 2007;66:222–7. 10.1136/ard.2006.054593 PubMed DOI PMC

Jennette JC, Falk RJ, Bacon PA. 2012 revised International Chapel hill consensus conference nomenclature of Vasculitides. Arthritis Rheum 2013;65:1–11. 10.1007/s10157-013-0869-6 PubMed DOI

Masi AT, Hunder GG, Lie JT, et al. . The American college of rheumatology 1990 criteria for the classification of Churg-Strauss syndrome (allergic granulomatosis and Angiitis). Arthritis Rheum 1990;33:1094–100. 10.1002/art.1780330806 PubMed DOI

Leavitt RY, Fauci AS, Bloch DA, et al. . The American College of Rheumatology 1990 criteria for the classification of Wegener’s granulomatosis. Arthritis & Rheumatism 1990;33:1101–7. 10.1002/art.1780330807 PubMed DOI