Frontiers in Medicine (Sep 2022)
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
- Matilde Bandeira,
- Matilde Bandeira,
- Federica Di Cianni,
- Diana Marinello,
- Laurent Arnaud,
- Sara Cannizzo,
- Sara Cannizzo,
- Claudio Carta,
- Alain Cornet,
- Sara M. Barril,
- Inita Bulina,
- Alessandro Ferraris,
- João Fonseca,
- João Fonseca,
- Andrea Gaglioti,
- Marteen Limper,
- Valentina Lorenzoni,
- Judith Majnik,
- Marco Matucci-Cerinic,
- Marco Matucci-Cerinic,
- Marco Matucci-Cerinic,
- Ilaria Palla,
- Simona Rednic,
- Matthias Schneider,
- Vanessa Smith,
- Vanessa Smith,
- Alberto Sulli,
- Alberto Sulli,
- Klaus Søndergaard,
- Simone Ticciati,
- Angela Tincani,
- Giuseppe Turchetti,
- Rosaria Talarico,
- Maurizio Cutolo,
- Maurizio Cutolo,
- Marta Mosca,
- Domenica Taruscio
Affiliations
- Matilde Bandeira
- Rheumatology Department, Lisbon Academic Medical Centre, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
- Matilde Bandeira
- Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
- Federica Di Cianni
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Diana Marinello
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Laurent Arnaud
- Rheumatology Department, Hôpitaux Universitaires de Strasbourg, Centre National de Référence des Maladies Systémiques et Auto-immunes Rares Grand-Est Sud-Ouest, Strasbourg, France
- Sara Cannizzo
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Sara Cannizzo
- Institute of Management, Sant'Anna School of Advanced Studies, Pisa, Italy
- Claudio Carta
- National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
- Alain Cornet
- Lupus Europe, Brussels, Belgium
- Sara M. Barril
- Rheumatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain
- Inita Bulina
- Department of Rheumatology, Stradins Clinical University Hospital, Riga, Latvia
- Alessandro Ferraris
- 0Medical Genetics Laboratory, Molecular Medicine Department, San Camillo Forlanini Hospital, Sapienza University, Rome, Italy
- João Fonseca
- Rheumatology Department, Lisbon Academic Medical Centre, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
- João Fonseca
- Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
- Andrea Gaglioti
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Marteen Limper
- 1Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands
- Valentina Lorenzoni
- Institute of Management, Sant'Anna School of Advanced Studies, Pisa, Italy
- Judith Majnik
- 2Department of Rheumatology and Clinical Immunology, Semmelweis University, Budapest, Hungary
- Marco Matucci-Cerinic
- 3Division of Rheumatology and Scleroderma Unit, Department of Clinical and Experimental Medicine, Azienda Ospedaliero Universitaria (AOU) Careggi, University of Florence, Florence, Italy
- Marco Matucci-Cerinic
- 4Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan, Italy
- Marco Matucci-Cerinic
- 5Department of Rheumatology, Emergency County Teaching Hospital, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania
- Ilaria Palla
- Institute of Management, Sant'Anna School of Advanced Studies, Pisa, Italy
- Simona Rednic
- 5Department of Rheumatology, Emergency County Teaching Hospital, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania
- Matthias Schneider
- 6Department of Rheumatology, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany
- Vanessa Smith
- 7Department of Rheumatology, Department of Internal Medicine, Ghent University Hospital, Ghent, Belgium
- Vanessa Smith
- 8Unit for Molecular Immunology and Inflammation, VIB Inflammation Research Centre, Ghent, Belgium
- Alberto Sulli
- 9Laboratory of Experimental Rheumatology, Division of Clinical Rheumatology, Department of Internal Medicine (DIMI), University of Genoa, Genoa, Italy
- Alberto Sulli
- 0IRCCS Polyclinic Hospital San Martino, Genoa, Italy
- Klaus Søndergaard
- 1Department of Rheumatology, Aarhus University Hospital, Aarhus, Denmark
- Simone Ticciati
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Angela Tincani
- 2Rheumatology and Clinical Immunology Unit, ASST-Spedali Civili, University of Brescia, Brescia, Italy
- Giuseppe Turchetti
- Institute of Management, Sant'Anna School of Advanced Studies, Pisa, Italy
- Rosaria Talarico
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Maurizio Cutolo
- 9Laboratory of Experimental Rheumatology, Division of Clinical Rheumatology, Department of Internal Medicine (DIMI), University of Genoa, Genoa, Italy
- Maurizio Cutolo
- 0IRCCS Polyclinic Hospital San Martino, Genoa, Italy
- Marta Mosca
- Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, University of Pisa, Pisa, Italy
- Domenica Taruscio
- National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
- DOI
- https://doi.org/10.3389/fmed.2022.889997
- Journal volume & issue
-
Vol. 9
Abstract
BackgroundPatient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European Registry Infrastructure with the aim to plan, upgrade and link registries for rCTDs, with the final goal to promote a harmonized data collection approach all over Europe for rCTDs.MethodsAn online survey addressed to healthcare professionals and patients' representatives active in the field of rCTDs was integrated by an extensive database search in order to build a mapping of existing registries for rCTDs.FindingsA total of 140 registries were found, 38 of which include multiple diseases. No disease-specific registry was identified for relapsing polychondritis, mixed connective tissue disease and undifferentiated connective tissue disease.DiscussionThis overview on the existing registries for rCTDs provides a useful starting point to identify the gaps and the strengths of registries on the coverage of rCTDs, and to develop a common data set and data collection approach for the establishment of the TogethERN ReCONNET Infrastructure.
Keywords
- rare and complex connective tissue diseases
- registries
- ERN ReCONNET
- TogethERN ReCONNET
- European Reference Networks
