Frontiers in Medicine (Sep 2022)
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases
- Carla Gaggiano,
- Antonio Vitale,
- Abdurrahman Tufan,
- Gaafar Ragab,
- Gaafar Ragab,
- Emma Aragona,
- Ewa Wiesik-Szewczyk,
- Djouher Ait-Idir,
- Giovanni Conti,
- Ludovica Iezzi,
- Maria Cristina Maggio,
- Marco Cattalini,
- Francesco La Torre,
- Giuseppe Lopalco,
- Elena Verrecchia,
- Elena Verrecchia,
- Amato de Paulis,
- Amato de Paulis,
- Ali Sahin,
- Antonella Insalaco,
- Petros P. Sfikakis,
- Achille Marino,
- Micol Frassi,
- Benson Ogunjimi,
- Benson Ogunjimi,
- Benson Ogunjimi,
- Benson Ogunjimi,
- Daniela Opris-Belinski,
- Paola Parronchi,
- Giacomo Emmi,
- Farhad Shahram,
- Francesco Ciccia,
- Matteo Piga,
- José Hernández-Rodríguez,
- Rosa Maria R. Pereira,
- Maria Alessio,
- Roberta Naddei,
- Alma Nunzia Olivieri,
- Emanuela Del Giudice,
- Paolo Sfriso,
- Piero Ruscitti,
- Francesca Li Gobbi,
- Hamit Kucuk,
- Jurgen Sota,
- Mohamed A. Hussein,
- Giuseppe Malizia,
- Karina Jahnz-Różyk,
- Rawda Sari-Hamidou,
- Mery Romeo,
- Francesca Ricci,
- Fabio Cardinale,
- Florenzo Iannone,
- Francesca Della Casa,
- Marco Francesco Natale,
- Katerina Laskari,
- Teresa Giani,
- Franco Franceschini,
- Vito Sabato,
- Derya Yildirim,
- Valeria Caggiano,
- Mohamed Tharwat Hegazy,
- Mohamed Tharwat Hegazy,
- Rosalba Di Marzo,
- Aleksandra Kucharczyk,
- Ghalia Khellaf,
- Maria Tarsia,
- Ibrahim A. Almaghlouth,
- Ibrahim A. Almaghlouth,
- Ahmed Hatem Laymouna,
- Violetta Mastrorilli,
- Laura Dotta,
- Luca Benacquista,
- Salvatore Grosso,
- Francesca Crisafulli,
- Veronica Parretti,
- Heitor F. Giordano,
- Ayman Abdel-Monem Ahmed Mahmoud,
- Rossana Nuzzolese,
- Marta De Musso,
- Cecilia Beatrice Chighizola,
- Cecilia Beatrice Chighizola,
- Stefano Gentileschi,
- Mirella Morrone,
- Ilenia Di Cola,
- Veronica Spedicato,
- Henrique A. Mayrink Giardini,
- Ibrahim Vasi,
- Alessandra Renieri,
- Alessandra Renieri,
- Alessandra Renieri,
- Alessandra Fabbiani,
- Alessandra Fabbiani,
- Alessandra Fabbiani,
- Maria Antonietta Mencarelli,
- Bruno Frediani,
- Alberto Balistreri,
- Gian Marco Tosi,
- Claudia Fabiani,
- Merav Lidar,
- Merav Lidar,
- Merav Lidar,
- Donato Rigante,
- Donato Rigante,
- Luca Cantarini
Affiliations
- Carla Gaggiano
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Antonio Vitale
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Abdurrahman Tufan
- Division of Rheumatology, Department of Internal Medicine, Gazi University Faculty of Medicine, Ankara, Turkey
- Gaafar Ragab
- Internal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt
- Gaafar Ragab
- Faculty of Medicine, Newgiza University, 6th of October City, Egypt
- Emma Aragona
- Division of Gastroenterology, Ospedali Riuniti Villa Sofia-Vincenzo Cervello, Palermo, Italy
- Ewa Wiesik-Szewczyk
- Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defence, Military Institute of Medicine, Warsaw, Poland
- Djouher Ait-Idir
- Research Laboratory, Biodiversity, Biotechnology, Environment and Sustainable Development, Department of Biology, Faculty of Sciences, M'Hamed Bougara University, Boumerdes, Algeria
- Giovanni Conti
- Pediatric Nephrology and Rheumatology Unit, Azienda Ospedaliero Universitaria (AOU) G Martino, Messina, Italy
- Ludovica Iezzi
- Department of Life Sciences and Global Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- Maria Cristina Maggio
- 0University Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) “G. D'Alessandro”, University of Palermo, Palermo, Italy
- Marco Cattalini
- 1Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy
- Francesco La Torre
- 2Department of Pediatrics, Pediatric Rheumatology Center, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy
- Giuseppe Lopalco
- 3Rheumatology Unit, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy
- Elena Verrecchia
- 4Rare Diseases and Periodic Fevers Research Centre, Università Cattolica del Sacro Cuore, Rome, Italy
- Elena Verrecchia
- 5Department of Aging, Neurological, Orthopedic and Head and Neck Sciences, Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
- Amato de Paulis
- 6Department of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy
- Amato de Paulis
- 7Center for Basic and Clinical Immunology Research (CISI), World Allergy Organization (WAO) Center of Excellence, University of Naples Federico II, Naples, Italy
- Ali Sahin
- 8Division of Rheumatology, Department of Internal Medicine, Medical Faculty, Sivas Cumhuriyet University, Sivas, Turkey
- Antonella Insalaco
- 9Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Rome, Italy
- Petros P. Sfikakis
- 0Joint Academic Rheumatology Program, Medical School, National and Kapodistrian University of Athens, Athens, Greece
- Achille Marino
- 1Unit of Pediatric Rheumatology, Azienda Socio-Sanitaria Territoriale (ASST) Gaetano Pini-Centro Specialistico Ortopedico Traumatologico (CTO), Milan, Italy
- Micol Frassi
- 2Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
- Benson Ogunjimi
- 3Departement of Pediatrics, Antwerp University Hospital, Edegem, Belgium
- Benson Ogunjimi
- 4Center for Health Economics Research and Modeling Infectious Diseases, Vaccine and Infectious Diseases Institute (VAXINFECTIO), University of Antwerp, Antwerp, Belgium
- Benson Ogunjimi
- 5Department of Rheumatology, Ziekenhuis Netwerk Antwerpen, Antwerp, Belgium
- Benson Ogunjimi
- 6KidZ Health Castle, Universitair Ziekenhuis Brussel, Jette, Belgium
- Daniela Opris-Belinski
- 7Rheumatology and Internal Medicine Department, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
- Paola Parronchi
- 8Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
- Giacomo Emmi
- 8Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
- Farhad Shahram
- 9Behcet's Disease Unit, Rheumatology Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
- Francesco Ciccia
- 0Department of Precision Medicine, Università Degli Studi Della Campania Luigi Vanvitelli, Naples, Italy
- Matteo Piga
- 1Rheumatology Unit, Department of Medical Sciences, University and AOU of Cagliari, Cagliari, Italy
- José Hernández-Rodríguez
- 2Vasculitis Research Unit, Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clinic of Barcelona, August Pi I Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain
- Rosa Maria R. Pereira
- 3Rheumatology Division, Faculdade de Medicina, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil
- Maria Alessio
- 4Pediatric Rheumatology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy
- Roberta Naddei
- 4Pediatric Rheumatology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy
- Alma Nunzia Olivieri
- 5Department of Woman, Child and of General and Specialized Surgery, University of Campania “Luigi Vanvitelli”, Naples, Italy
- Emanuela Del Giudice
- 6Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy
- Paolo Sfriso
- 7Rheumatology Unit, Department of Medicine (DIMED), University of Padova, Padova, Italy
- Piero Ruscitti
- 8Rheumatology Unit, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy
- Francesca Li Gobbi
- 9Rheumatology Unit, San Giovanni di Dio Hospital, Firenze, Italy
- Hamit Kucuk
- Division of Rheumatology, Department of Internal Medicine, Gazi University Faculty of Medicine, Ankara, Turkey
- Jurgen Sota
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Mohamed A. Hussein
- Internal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt
- Giuseppe Malizia
- Division of Gastroenterology, Ospedali Riuniti Villa Sofia-Vincenzo Cervello, Palermo, Italy
- Karina Jahnz-Różyk
- Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defence, Military Institute of Medicine, Warsaw, Poland
- Rawda Sari-Hamidou
- 0Research Laboratory Toxicomed, Faculty of Medicine, Abou Bekr Belkaid University, Tlemcen, Algeria
- Mery Romeo
- Pediatric Nephrology and Rheumatology Unit, Azienda Ospedaliero Universitaria (AOU) G Martino, Messina, Italy
- Francesca Ricci
- 1Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy
- Fabio Cardinale
- 2Department of Pediatrics, Pediatric Rheumatology Center, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy
- Florenzo Iannone
- 3Rheumatology Unit, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy
- Francesca Della Casa
- 6Department of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy
- Marco Francesco Natale
- 9Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Rome, Italy
- Katerina Laskari
- 0Joint Academic Rheumatology Program, Medical School, National and Kapodistrian University of Athens, Athens, Greece
- Teresa Giani
- 1Unit of Pediatric Rheumatology, Azienda Socio-Sanitaria Territoriale (ASST) Gaetano Pini-Centro Specialistico Ortopedico Traumatologico (CTO), Milan, Italy
- Franco Franceschini
- 2Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
- Vito Sabato
- 1Department of Immunology, Allergology, Rheumatology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium
- Derya Yildirim
- Division of Rheumatology, Department of Internal Medicine, Gazi University Faculty of Medicine, Ankara, Turkey
- Valeria Caggiano
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Mohamed Tharwat Hegazy
- Internal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt
- Mohamed Tharwat Hegazy
- Faculty of Medicine, Newgiza University, 6th of October City, Egypt
- Rosalba Di Marzo
- 2Division of Ematology II, Ospedali Riuniti Villa Sofia-Vincenzo Cervello, Palermo, Italy
- Aleksandra Kucharczyk
- Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defence, Military Institute of Medicine, Warsaw, Poland
- Ghalia Khellaf
- 3Faculté de Médecine, Service de Néphrologie, Centre Hospitalo-Universitaire Lamine Debaghine, Université Alger 1 Benyoucef Benkhedda, Alger, Algeria
- Maria Tarsia
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Ibrahim A. Almaghlouth
- 4Rheumatology Unit, Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia
- Ibrahim A. Almaghlouth
- 5College of Medicine Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia
- Ahmed Hatem Laymouna
- Internal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt
- Violetta Mastrorilli
- 2Department of Pediatrics, Pediatric Rheumatology Center, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy
- Laura Dotta
- 1Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy
- Luca Benacquista
- Department of Life Sciences and Global Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- Salvatore Grosso
- 6Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy
- Francesca Crisafulli
- 2Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
- Veronica Parretti
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Heitor F. Giordano
- 3Rheumatology Division, Faculdade de Medicina, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil
- Ayman Abdel-Monem Ahmed Mahmoud
- Internal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt
- Rossana Nuzzolese
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Marta De Musso
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- Cecilia Beatrice Chighizola
- 7Department of Clinical Sciences and Community Health, Research Center for Adult and Pediatric Rheumatic Diseases, University of Milan, Milan, Italy
- Cecilia Beatrice Chighizola
- 8Pediatric Rheumatology Unit, Azienda Socio-Sanitaria Territoriale (ASST) Gaetano Pini Centro Specialistico Ortopedico Traumatologico (CTO), Milan, Italy
- Stefano Gentileschi
- 9Unit of Rheumatology, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
- Mirella Morrone
- 3Rheumatology Unit, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy
- Ilenia Di Cola
- 8Rheumatology Unit, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy
- Veronica Spedicato
- 3Rheumatology Unit, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy
- Henrique A. Mayrink Giardini
- 3Rheumatology Division, Faculdade de Medicina, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil
- Ibrahim Vasi
- Division of Rheumatology, Department of Internal Medicine, Gazi University Faculty of Medicine, Ankara, Turkey
- Alessandra Renieri
- 0Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy
- Alessandra Renieri
- 1Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy
- Alessandra Renieri
- 2Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
- Alessandra Fabbiani
- 0Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy
- Alessandra Fabbiani
- 1Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy
- Alessandra Fabbiani
- 2Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
- Maria Antonietta Mencarelli
- 2Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
- Bruno Frediani
- 9Unit of Rheumatology, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
- Alberto Balistreri
- 3Bioengineering and Biomedical Data Science Lab, Department of Medical Biotechnologies, University of Siena, Siena, Italy
- Gian Marco Tosi
- 4Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
- Claudia Fabiani
- 4Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
- Merav Lidar
- 5Familial Mediterranean Fever (FMF) Clinic, The Chaim Sheba Medical Center, Ramat-Gan, Israel
- Merav Lidar
- 6Rheumatology Unit, The Chaim Sheba Medical Center, Ramat-Gan, Israel
- Merav Lidar
- 7The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
- Donato Rigante
- Department of Life Sciences and Global Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- Donato Rigante
- 4Rare Diseases and Periodic Fevers Research Centre, Università Cattolica del Sacro Cuore, Rome, Italy
- Luca Cantarini
- Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy
- DOI
- https://doi.org/10.3389/fmed.2022.980679
- Journal volume & issue
-
Vol. 9
Abstract
ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture (REDCap) tool, used for real-world data collection of demographics, clinical, laboratory, instrumental and socioeconomic data of mAIDs patients. The instrument has flexibility, may change over time based on new scientific acquisitions, and communicate potentially with other similar registries; security, data quality and data governance are corner stones of the platform.ResultsAIDA project will share knowledge and expertise on mAIDs. Since its start, 118 centers from 24 countries and 4 continents have joined the AIDA project. Fifty-nine centers have already obtained the approval from their local Ethics Committees. Currently, the platform counts 337 users (122 Principal Investigators, 210 Site Investigators, 2 Lead Investigators, and 3 data managers). The Registry collects baseline and follow-up data using 3,748 fields organized into 21 instruments, which include demographics, patient history, symptoms, trigger/risk factors, therapies, and healthcare information for mAIDs patients.ConclusionsThe AIDA mAIDs Registry, acts both as a research tool for future collaborative real-life studies on mAIDs and as a service to connect all the figures called to participate. On this basis, the registry is expected to play a pivotal role in generating new scientific evidence on this group of rare diseases, substantially improving the management of patients, and optimizing the impact on the healthcare system. NCT 05200715 available at https://clinicaltrials.gov.
Keywords
- autoinflammatory diseases
- international registry
- personalized medicine
- precision medicine
- rare diseases
