Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

Antonio Vitale, Valeria Caggiano, Francesca Della Casa, José Hernández-Rodríguez, Micol Frassi, Sara Monti, Abdurrahman Tufan, Salvatore Telesca, Edoardo Conticini, Gaafar Ragab, Giuseppe Lopalco, Ibrahim Almaghlouth, Rosa Maria R Pereira, Derya Yildirim, Marco Cattalini, Achille Marino, Teresa Giani, Francesco La Torre, Piero Ruscitti, Emma Aragona, Ewa Wiesik-Szewczyk, Emanuela Del Giudice, Petros P Sfikakis, Marcello Govoni, Giacomo Emmi, Maria Cristina Maggio, Roberto Giacomelli, Francesco Ciccia, Giovanni Conti, Djouher Ait-Idir, Claudia Lomater, Vito Sabato, Matteo Piga, Ali Sahin, Daniela Opris-Belinski, Ruxandra Ionescu, Elena Bartoloni, Franco Franceschini, Paola Parronchi, Amato de Paulis, Gerard Espinosa, Armin Maier, Gian Domenico Sebastiani, Antonella Insalaco, Farhad Shahram, Paolo Sfriso, Francesca Minoia, Maria Alessio, Joanna Makowska, Gülen Hatemi, Nurullah Akkoç, Francesca Li Gobbi, Antonio Gidaro, Alma Nunzia Olivieri, Sulaiman M Al-Mayouf, Sükran Erten, Stefano Gentileschi, Ibrahim Vasi, Maria Tarsia, Ayman Abdel-Monem Ahmed Mahmoud, Bruno Frediani, Musa Fares Alzahrani, Ahmed Hatem Laymouna, Francesca Ricci, Fabio Cardinale, Karina Jahnz-Rózyk, Gian Marco Tosi, Francesca Crisafulli, Alberto Balistreri, Marília A Dagostin, Mahmoud Ghanema, Carla Gaggiano, Jurgen Sota, Ilenia Di Cola, Claudia Fabiani, Henrique A Mayrink Giardini, Alessandra Renieri, Alessandra Fabbiani, Anna Carrer, Monica Bocchia, Federico Caroni, Donato Rigante, Luca Cantarini, Antonio Vitale, Valeria Caggiano, Francesca Della Casa, José Hernández-Rodríguez, Micol Frassi, Sara Monti, Abdurrahman Tufan, Salvatore Telesca, Edoardo Conticini, Gaafar Ragab, Giuseppe Lopalco, Ibrahim Almaghlouth, Rosa Maria R Pereira, Derya Yildirim, Marco Cattalini, Achille Marino, Teresa Giani, Francesco La Torre, Piero Ruscitti, Emma Aragona, Ewa Wiesik-Szewczyk, Emanuela Del Giudice, Petros P Sfikakis, Marcello Govoni, Giacomo Emmi, Maria Cristina Maggio, Roberto Giacomelli, Francesco Ciccia, Giovanni Conti, Djouher Ait-Idir, Claudia Lomater, Vito Sabato, Matteo Piga, Ali Sahin, Daniela Opris-Belinski, Ruxandra Ionescu, Elena Bartoloni, Franco Franceschini, Paola Parronchi, Amato de Paulis, Gerard Espinosa, Armin Maier, Gian Domenico Sebastiani, Antonella Insalaco, Farhad Shahram, Paolo Sfriso, Francesca Minoia, Maria Alessio, Joanna Makowska, Gülen Hatemi, Nurullah Akkoç, Francesca Li Gobbi, Antonio Gidaro, Alma Nunzia Olivieri, Sulaiman M Al-Mayouf, Sükran Erten, Stefano Gentileschi, Ibrahim Vasi, Maria Tarsia, Ayman Abdel-Monem Ahmed Mahmoud, Bruno Frediani, Musa Fares Alzahrani, Ahmed Hatem Laymouna, Francesca Ricci, Fabio Cardinale, Karina Jahnz-Rózyk, Gian Marco Tosi, Francesca Crisafulli, Alberto Balistreri, Marília A Dagostin, Mahmoud Ghanema, Carla Gaggiano, Jurgen Sota, Ilenia Di Cola, Claudia Fabiani, Henrique A Mayrink Giardini, Alessandra Renieri, Alessandra Fabbiani, Anna Carrer, Monica Bocchia, Federico Caroni, Donato Rigante, Luca Cantarini

Abstract

Objective: The aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.

Methods: This Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thus enhancing international collaboration and data sharing for research purposes. The Registry is practical enough to be easily modified to meet future needs regarding VEXAS syndrome.

Results: To date (April 22nd, 2022), 113 Centers from 23 Countries in 4 continents have been involved; 324 users (114 Principal Investigators, 205 Site Investigators, 2 Lead Investigators, and 3 data managers) are currently able to access the registry for data entry (or data sharing) and collection. The Registry includes 4,952 fields organized into 18 instruments designed to fully describe patient's details about demographics, clinical manifestations, symptoms, histologic details about skin and bone marrow biopsies and aspirate, laboratory features, complications, comorbidities, therapies, and healthcare access.

Conclusion: This international Registry for patients with VEXAS syndrome will allow the achievement of a comprehensive knowledge about this new disease, with the final goal to obtain real-world evidence for daily clinical practice, especially in relation to the comprehension of this disease about the natural history and the possible therapeutic approaches. This Project can be found on https://ichgcp.net/clinical-trials-registry/NCT05200715" title="See in ClinicalTrials.gov">NCT05200715.

Keywords: autoinflammatory diseases; clinical management; precision medicine; rare diseases; research; treatment.

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 Vitale, Caggiano, Della Casa, Hernández-Rodríguez, Frassi, Monti, Tufan, Telesca, Conticini, Ragab, Lopalco, Almaghlouth, Pereira, Yildirim, Cattalini, Marino, Giani, La Torre, Ruscitti, Aragona, Wiesik-Szewczyk, Del Giudice, Sfikakis, Govoni, Emmi, Maggio, Giacomelli, Ciccia, Conti, Ait-Idir, Lomater, Sabato, Piga, Sahin, Opris-Belinski, Ionescu, Bartoloni, Franceschini, Parronchi, de Paulis, Espinosa, Maier, Sebastiani, Insalaco, Shahram, Sfriso, Minoia, Alessio, Makowska, Hatemi, Akkoç, Li Gobbi, Gidaro, Olivieri, Al-Mayouf, Erten, Gentileschi, Vasi, Tarsia, Mahmoud, Frediani, Fares Alzahrani, Laymouna, Ricci, Cardinale, Jahnz-Rózyk, Tosi, Crisafulli, Balistreri, Dagostin, Ghanema, Gaggiano, Sota, Di Cola, Fabiani, Giardini, Renieri, Fabbiani, Carrer, Bocchia, Caroni, Rigante and Cantarini.

Figures

Figure 1
Figure 1
Worldwide distribution of the AIDA network on 22nd of April 2022.

References

    1. Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. . Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. (2020) 383:2628–38. 10.1056/NEJMoa2026834
    1. Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, et al. . Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. (2021) 5:3203–15. 10.1182/bloodadvances.2021004976
    1. Rare diseases . Public Health - European Commission. (2016). Available online at: (accessed December 4, 2021).
    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. 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. 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. 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 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) 9:878–797. 10.3389/fmed.2022.878797
    1. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG, et al. . 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. EUR-Lex - 32016R0679 - EN - EUR-Lex . Available online at: (accessed December 21, 2021).
    1. ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, et al. . Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. (2015) 74:1636–44. 10.1136/annrheumdis-2015-207546
    1. Dundar M, Fahrioglu U, Yildiz SH, et al. . Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Funct Integr Genomics. (2022) 22:291–315. 10.1007/s10142-021-00819-3
    1. Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, et al. . A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. Orphanet J Rare Dis. (2017) 12:167. 10.1186/s13023-017-0720-3
    1. Lacombe V, Prevost M, Bouvier A, Thépot S, Chabrun F, Kosmider O, et al. . Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold. Br J Haematol. (2021) 195:286–9. 10.1111/bjh.17679
    1. Staels F, Betrains A, Woei-A-Jin FJSH, Boeckx N, Beckers M, Bervoets A, et al. . Case report: VEXAS syndrome: from mild symptoms to life-threatening macrophage activation syndrome. Front Immunol. (2021) 12:678927. 10.3389/fimmu.2021.678927
    1. van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, et al. . Adult-onset autoinflammation caused by somatic mutations in UBA1: a dutch case series of patients with VEXAS. J Allergy Clin Immunol. (2022) 149:432–9.e4. 10.1016/j.jaci.2021.05.014

Source: PubMed

Patrocinadores y Colaboradores

Condiciones médicas

Intervenciones de drogas

3
Suscribir