FAIRVASC - building registry interoperability to inform clinical care
Public Health, Healthcare Research, Social and Occupational Medicine
Final Report Abstract
FAIRVASC is a research project of the European Vasculitis Society (EUVAS) and the European Reference Network for Rare Immunological Disorders (ERN RITA), bringing together leading scientists, clinicians and patient organisations. FAIRVASC uses semantic-web technologies to link vasculitis registries across Europe into a ‘single European dataset’, and thus open the door to new research into these challenging diseases. The programme ensures that all included registries are FAIR (findable, accessible, interoperable, reusable) and that the infrastructure developed is aligned with developments in the European Joint Programme on Rare Diseases (EJP RD). Vasculitis is an acquired, immune mediated inflammatory disease involving blood vessels of many tissues and organs. FAIRVASC focusses on ANCA-associated Vasculitis (AAV), a group of disorders with strong association of anti-neutrophil cytoplasmic antibodies (ANCA), namely Granulomatosis with Polyangiitis (GPA, formerly called Wegener’s granulomatosis), Microscopic Polyangiitis (MPA) and Eosinophilic Granulomatosis with Polyangiitis (EGPA, formerly called the Churg-Strauss syndrome). As AAV is rare, there are relatively few patients in any one country and many important gaps in our knowledge about the condition. FAIRVASC created a common semantic data model for vasculitis that all participating data providers mapped and transformed their data to. Via a website, the “FAIRVASC query interface”, authenticated users can run a set of predefined, parameterised queries across the connected data sources and retrieve aggregated results. The available queries cover demography, diagnosis, laboratory tests, organ pattern, treatment, complications and outcomes (mortality, end stage kidney disease). In November 2023, the following seven data sources are connected to this query interface: Ireland’s Rare Kidney Disease registry, the the Czech Vasculitis Registry, the French Vasculitis Study Group Registry, the Polish Vasculitis Registry, Sweden’s Skåne Vasculitis Inception Cohort, an italian vasculitis registry and the Joint Vasculitis Registry in German-speaking countries (GeVas). GeVas contributes data from 209 patients to the total of over 5500 patients now included in FAIRVASC. The FAIRVASC infrastructure facilitates federated data queries across multiple vasculitis registries, addressing crucial knowledge gaps related to the occurrence of vasculitis, varying susceptibilities among individuals, the disease process within the body, and the potential need for distinct treatments for different types of vasculitis.
Publications
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Clustering of anti-neutrophil cytoplasmic antibody-associated vasculitis - using a pre-processed harmonised dataset. 20th International Vasculitis and ANCA Workshop 03-06, April 2022, Dublin Ireland
Karl Gisslander, Arthur White, Mårten Segelmark, Mark A. Little & Aladdin J. Mohammad
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Clustering of Anti-neutrophil Cytoplasmic Antibody-associated Vasculitis – Using a Preprocessed Harmonised Dataset. American College of Rheumatology Convergence conference 2022, 12 Nov 2022
Karl Gisslander, Arthur White, Mårten Segelmark, Mark A. Little & Aladdin J. Mohammad
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Data quality in ANCA-associated vasculitis: an analysis of the FAIRVASC registries. 20th International Vasculitis and ANCA Workshop 03-06, April 2022, Dublin Ireland
Matthew A. Rutherford, Hannelore Aerts, Raissa de Boer, Karl Gisslander, François Dradin, Dagmar Jäger, Zdenka Hrušková, Krzysztof Wójcik, Jennifer Scott, Matthew Henry, Kris McGlinn, Lucy Hederman, Dipak Kalra, Neil Basu & Mark A. Little
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FAIRVASC: A semantic web approach to rare disease registry integration. 20th International Vasculitis and ANCA Workshop 03-06, April 2022, Dublin Ireland
Kris McGlinn, Karl Gisslander, Matthew Rutherford, Dagmar Jäger, Fabian Schubach, Raissa de Boer, Richard Straka, Zdenka Hruskova, Francois Dradin, Sabina Licholai, Lucy Hederman, Mark A. Little & Declan O’Sullivan
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FAIRVASC: A semantic web approach to rare disease registry integration. Computers in Biology and Medicine, 145, 105313.
McGlinn, Kris; Rutherford, Matthew A.; Gisslander, Karl; Hederman, Lucy; Little, Mark A. & O.'Sullivan, Declan
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The Birmingham Vasculitis Activity Score (BVAS) Ontology. 20th International Vasculitis and ANCA Workshop 03-06, April 2022, Dublin Ireland
Kris McGlinn, Gaye Stephens, Raashid Luqmani, Jennifer Scott, Sepideh Hooshafza, Lucy Hederman, Declan O’Sullivan & Mark A. Little
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Towards A Rare Disease Registry Standard: Semantic Mapping of Common Data Elements Between FAIRVASC and the European Joint Programme for Rare Disease. 5th Workshop on Semantic Web solutions for large-scale biomedical data analytics
Beyza Yaman, Lucy Hederman, Declan O'Sullivan, Mark Little & Kris McGlinn
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Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective. Orphanet Journal of Rare Diseases, 18(1).
Gisslander, Karl; Mohammad, Aladdin J.; Vaglio, Augusto & Little, Mark A.
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Data quality and patient characteristics in European ANCA-associated vasculitis registries: data retrieval by federated querying. Annals of the Rheumatic Diseases, 83(1), 112-120.
Gisslander, Karl; Rutherford, Matthew; Aslett, Louis; Basu, Neil; Dradin, François; Hederman, Lucy; Hruskova, Zdenka; Kardaoui, Hicham; Lamprecht, Peter; Lichołai, Sabina; Musial, Jacek; O.'Sullivan, Declan; Puechal, Xavier; Scott, Jennifer; Segelmark, Mårten; Straka, Richard; Terrier, Benjamin; Tesar, Vladimir; Tesi, Michelangelo ... & Mohammad, Aladdin J.
