The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, 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, Amato de Paulis, Ali Sahin, Antonella Insalaco, Petros P Sfikakis, Achille Marino, Micol Frassi, 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, Rosalba Di Marzo, Aleksandra Kucharczyk, Ghalia Khellaf, Maria Tarsia, 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, Stefano Gentileschi, Mirella Morrone, Ilenia Di Cola, Veronica Spedicato, Henrique A Mayrink Giardini, Ibrahim Vasi, Alessandra Renieri, Alessandra Fabbiani, Maria Antonietta Mencarelli, Bruno Frediani, Alberto Balistreri, Gian Marco Tosi, Claudia Fabiani, Merav Lidar, Donato Rigante, Luca Cantarini, Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, 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, Amato de Paulis, Ali Sahin, Antonella Insalaco, Petros P Sfikakis, Achille Marino, Micol Frassi, 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, Rosalba Di Marzo, Aleksandra Kucharczyk, Ghalia Khellaf, Maria Tarsia, 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, Stefano Gentileschi, Mirella Morrone, Ilenia Di Cola, Veronica Spedicato, Henrique A Mayrink Giardini, Ibrahim Vasi, Alessandra Renieri, Alessandra Fabbiani, Maria Antonietta Mencarelli, Bruno Frediani, Alberto Balistreri, Gian Marco Tosi, Claudia Fabiani, Merav Lidar, Donato Rigante, Luca Cantarini

Abstract

Objective: The 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.

Methods: This 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.

Results: AIDA 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.

Conclusions: The 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. NCT05200715 available at https://clinicaltrials.gov.

Keywords: autoinflammatory diseases; international registry; personalized medicine; precision medicine; rare diseases.

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Copyright © 2022 Gaggiano, Vitale, Tufan, Ragab, Aragona, Wiesik-Szewczyk, Ait-Idir, Conti, Iezzi, Maggio, Cattalini, Torre, Lopalco, Verrecchia, Paulis, Sahin, Insalaco, Sfikakis, Marino, Frassi, Ogunjimi, Opris-Belinski, Parronchi, Emmi, Shahram, Ciccia, Piga, Hernández-Rodríguez, Pereira, Alessio, Naddei, Olivieri, Giudice, Sfriso, Ruscitti, Gobbi, Kucuk, Sota, Hussein, Malizia, Jahnz-Różyk, Sari-Hamidou, Romeo, Ricci, Cardinale, Iannone, Casa, Natale, Laskari, Giani, Franceschini, Sabato, Yildirim, Caggiano, Hegazy, Marzo, Kucharczyk, Khellaf, Tarsia, Almaghlouth, Laymouna, Mastrorilli, Dotta, Benacquista, Grosso, Crisafulli, Parretti, Giordano, Mahmoud, Nuzzolese, Musso, Chighizola, Gentileschi, Morrone, Cola, Spedicato, Giardini, Vasi, Renieri, Fabbiani, Mencarelli, Frediani, Balistreri, Tosi, Fabiani, Lidar, Rigante and Cantarini.

Figures

Figure 1
Figure 1
Current geographical coverage of the Autoinflammatory Diseases Alliance (AIDA) Registry of Monogenic Autoinflammatory Diseases. Countries highlighted in violet are those with at least one AIDA partner center (updated to June 20th, 2022).

References

    1. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. (2017) 18:832–42. 10.1038/ni.3777
    1. Rigante D, Frediani B, Galeazzi M, Cantarini L. From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases. Biomed Res Int. (2013) 2013:485103. 10.1155/2013/485103
    1. Georgin-Lavialle S, Ducharme-Benard S, Sarrabay G, Savey L, Grateau G, Hentgen V. Systemic autoinflammatory diseases: clinical state of the art. Best Pract Res Clin Rheumatol. (2020) 34:101529. 10.1016/j.berh.2020.101529
    1. Gliklich RE, Dreyer NA, Leavy MB. Registries for Evaluating Patient Outcomes: A User's Guide. 3rd ed. Rockville, MD: Agency for Healthcare Research and Quality (US); 2014 Apr. Report No.: 13-EHC111.
    1. Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, et al. . Recommendations for improving the quality of rare disease registries. Int J Environ Res Public Health. (2018) 15:1644. 10.3390/ijerph15081644
    1. Boulanger V, Schlemmer M, Rossov S, Seebald A, Gavin P. Establishing patient registries for rare diseases: rationale and challenges. Pharmaceut Med. (2020) 34:185–90. 10.1007/s40290-020-00332-1
    1. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in cross-border healthcare . Off J Eur Union. (2011) L88:45–65.
    1. Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D. A model for the European platform for rare disease registries. Public Health Genomics. (2013) 16:299–304. 10.1159/000355935
    1. Della Casa F, Vitale A, Pereira RM, Guerriero S, Ragab G, Lopalco G, et al. . Development and implementation of the AIDA international registry for patients with non-infectious scleritis. Ophthalmol Ther. (2022) 11:887–97. 10.1007/s40123-022-00466-2
    1. Casa FD, Vitale A, Guerriero S, Sota J, Cimaz R, Ragab G, et al. . Development and implementation of the AIDA international registry for patients with non-infectious uveitis. Ophthalmol Ther. (2022) 11:899–911. 10.1007/s40123-022-00459-1
    1. Vitale A, Della Casa F, Lopalco G, Pereira RM, Ruscitti P, Giacomelli R, et al. . Development and implementation of the AIDA international registry for patients with still's disease. Front Med. (2022) 9:878797. 10.3389/fmed.2022.878797
    1. Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, et al. . Data quality in rare diseases registries. Adv Exp Med Biol. (2017) 1031:149–64. 10.1007/978-3-319-67144-4_8
    1. Yalçinkaya F, Ozen S, Ozçakar ZB, Aktay N, Cakar N, Düzova A, et al. . A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology. (2009) 48:395–8. 10.1093/rheumatology/ken509
    1. Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, et al. . Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. (2019) 78:1025–32. 10.1136/annrheumdis-2019-215048
    1. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. . Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. (1997) 40:1879–85. 10.1002/art.1780401023
    1. Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, et al. . Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann Rheum Dis. (2017) 76:942–47. 10.1136/annrheumdis-2016-209686
    1. Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, et al. . ISSAID/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era. Clin Chem. (2020) 66:525–36. 10.1093/clinchem/hvaa024
    1. Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, et al. . New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). J Med Genet. (2018) 55:530–7. 10.1136/jmedgenet-2017-105216
    1. Taruscio D, Mollo E, Gainotti S, Posada de la Paz M, Bianchi F, Vittozzi L. The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration. Arch Public Health. (2014) 72:35. 10.1186/2049-3258-72-35
    1. World Medical Association . World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA. (2013) 310:2191–4. 10.1001/jama.2013.281053
    1. Regulation Regulation (EU) 2016/679 of the European Parliament and of the Council of 27 April 2016 on the Protection of Natural Persons with Regard to the Processing of Personal Data and on the Free Movement of Such Data and Repealing Directive 95/46/EC (General Data Protection Regulation) (Text with EEA Relevance) . Available online at: (accessed June 1, 2022).
    1. Wilkinson MD, Dumontier M, Aalbersberg IJ, Appleton G, Axton M, Baak A, et al. . The FAIR guiding principles for scientific data management and stewardship. Sci Data. (2016) 3:160018. 10.1038/sdata.2016.18
    1. Papa R, Cant A, Klein C, Little MA, Wulffraat NM, Gattorno M, et al. . Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey. Orphanet J Rare Dis. (2020) 15:33. 10.1186/s13023-020-1308-x
    1. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)–a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. (2009) 42:377–81. 10.1016/j.jbi.2008.08.010
    1. Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O'Neal L, et al. . The REDCap consortium: building an international community of software platform partners. J Biomed Inform. (2019) 95:103208. 10.1016/j.jbi.2019.103208
    1. Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, et al. . The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist. Arthritis Rheumatol. (2022) 74:1102–21. 10.1002/art.42139
    1. Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, et al. . The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS. Ann Rheum Dis. (2022) 81:601–13. 10.1136/annrheumdis-2021-221814

Source: PubMed

Sponsorit ja yhteistyökumppanit

Sairaudet

Huumeiden interventiot

3
Tilaa