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3. Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network registries

Author

Vitale, A, Caggiano, V, Tufan, A, Ragab, G, Batu, Ed, Portincasa, P, Aragona, E, Sota, J, Conti, G, De Paulis, A, Rigante, Donato, Olivieri, An, S ̧ahin, A, La Torre, F, Lopalco, G, Cattalini, M, Maggio, Mc, Insalaco, A, Sfikakis, Pp, Verrecchia, Elena, Yildirim, D, Kucuk, H, Kardas, Rc, Laymouna, Ah, Ghanema, M, Saad, Ma, Sener, S, Ercan Emreol, H, Ozen, S, Jaber, N, Khalil, M, Di Ciaula, A, Gaggiano, C, Malizia, G, Affronti, A, Patroniti, S, Romeo, M, Sbalchiero, J, Della Casa, F, Mormile, I, Silvaroli, Sara, Gicchino, Mf, Çelik, Nç, Tarsia, M, Karamanakos, A, Hernández-Rodríguez, J, Parronchi, P, Opris-Belinski, D, Barone, P, Recke, A, Costi, S, Sfriso, P, Giardini, Ham, Gentileschi, S, Wiesik-Szewczyk, E, Vasi, I, Loconte, R, Jahnz-Różyk, K, Martín-Nares, E, Torres-Ruiz, J, Cauli, A, Conforti, A, Emmi, G, Li Gobbi, F, Biasi, Gr, Terribili, R, Ruscitti, P, Del Giudice, E, Tharwat, S, Brucato, Al, Ogunjimi, B, Hinojosa-Azaola, A, Balistreri, A, Fabiani, C, Frediani, B, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Verrecchia E, Silvaroli S, Vitale, A, Caggiano, V, Tufan, A, Ragab, G, Batu, Ed, Portincasa, P, Aragona, E, Sota, J, Conti, G, De Paulis, A, Rigante, Donato, Olivieri, An, S ̧ahin, A, La Torre, F, Lopalco, G, Cattalini, M, Maggio, Mc, Insalaco, A, Sfikakis, Pp, Verrecchia, Elena, Yildirim, D, Kucuk, H, Kardas, Rc, Laymouna, Ah, Ghanema, M, Saad, Ma, Sener, S, Ercan Emreol, H, Ozen, S, Jaber, N, Khalil, M, Di Ciaula, A, Gaggiano, C, Malizia, G, Affronti, A, Patroniti, S, Romeo, M, Sbalchiero, J, Della Casa, F, Mormile, I, Silvaroli, Sara, Gicchino, Mf, Çelik, Nç, Tarsia, M, Karamanakos, A, Hernández-Rodríguez, J, Parronchi, P, Opris-Belinski, D, Barone, P, Recke, A, Costi, S, Sfriso, P, Giardini, Ham, Gentileschi, S, Wiesik-Szewczyk, E, Vasi, I, Loconte, R, Jahnz-Różyk, K, Martín-Nares, E, Torres-Ruiz, J, Cauli, A, Conforti, A, Emmi, G, Li Gobbi, F, Biasi, Gr, Terribili, R, Ruscitti, P, Del Giudice, E, Tharwat, S, Brucato, Al, Ogunjimi, B, Hinojosa-Azaola, A, Balistreri, A, Fabiani, C, Frediani, B, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Verrecchia E, and Silvaroli S

Abstract

Objective: Inflammation has been associated with an increased risk for cancer development, while innate immune system activation could counteract the risk for malignancies. Familial Mediterranean fever (FMF) is a severe systemic inflammatory condition and also represents the archetype of innate immunity deregulation. Therefore, the aim of this study is to investigate the risk for cancer development in FMF. Methods: The risk ratio (RR) for malignancies was separately compared between FMF patients and fibromyalgia subjects, Still’s disease patients and Behçet’s disease patients. Clinical variables associated with cancer development in FMF patients were searched through binary logistic regression. Results: 580 FMF patients and 102 fibromyalgia subjects, 1012 Behçet’s disease patients and 497 Still’s disease patients were enrolled. The RR for the occurrence of malignant neoplasms was 0.26 (95% Confidence Interval [CI.] 0.10-0.73, p=0.006) in patients with FMF compared to fibromyalgia subjects; the RR for the occurrence of malignant cancer was 0.51 (95% CI. 0.23-1.16, p=0.10) in FMF compared to Still’s disease and 0.60 (95% CI. 0.29-1.28, p=0.18) in FMF compared to Behçet’s disease. At logistic regression, the risk of occurrence of malignant neoplasms in FMF patients was associated with the age at disease onset (b1 = 0.039, 95% CI. 0.001-0.071, p=0.02), the age at the diagnosis (b1 = 0.048, 95% CI. 0.039-0.085, p=0.006), the age at the enrolment (b1 = 0.05, 95% CI. 0.007-0.068, p=0.01), the number of attacks per year (b1 = 0.011, 95% CI. 0.001- 0.019, p=0.008), the use of biotechnological agents (b1 = 1.77, 95% CI. 0.43-3.19, p=0.009), the use of anti-IL-1 agents (b1 = 2.089, 95% CI. 0.7- 3.5, p=0.002). Conclusions: The risk for cancer is reduced in Caucasic FMF patients; however, when malignant neoplasms occur, this is more frequent in FMF cases suffering from a severe disease phenotype and presenting a colchicine-resistant disease.

Published
2024

4. The administration of methotrexate in patients with Still’s disease, “real-life” findings from AIDA Network Still Disease Registry

Author

362., Ruscitti P, Sota, J, Vitale, A, Lopalco, G, Iannone, F, Morrone, M, Giardini, Ham, D'Agostin, Ma, Antonelli, Ipb, Almaghlouth, I, Asfina, Kn, Khalil, N, Sfikakis, Pp, Laskari, K, Tektonidou, M, Ciccia, F, Iacono, D, Riccio, F, Ragab, G, Hussein, Ma, Govoni, M, Ruffilli, F, Direskeneli, H, Alibaz-Oner, F, Giacomelli, R, Navarini, L, Bartoloni, E, Riccucci, I, Martín-Nares, E, Torres-Ruiz, J, Cipriani, P, Di Cola, I, Hernández-Rodríguez, J, Gómez-Caverzaschi, V, Dagna, L, Tomelleri, A, Makowska, J, Brzezinska, O, Iagnocco, A, Bellis, E, Caggiano, V, Gaggiano, C, Tarsia, M, Mormile, I, Emmi, G, Sfriso, P, Monti, S, Erten, Ş, Del Giudice, E, Lubrano, R, Conti, G, Olivieri, An, Lo Gullo, A, Tharwat, S, Karamanakos, A, Gidaro, A, Maggio, Mc, La Torre, F, Cardinale, F, Ogunjimi, B, Maier, A, Sebastiani, Gd, Opris-Belinski, D, Frassi, M, Viapiana, O, Bizzi, E, Carubbi, F, Fotis, L, Tufan, A, Kardas, Rc, Więsik-Szewczyk, E, Jahnz-Różyk, K, Fabiani, C, Frediani, B, Balistreri, A, Rigante, Donato, Cantarini, L, 362. Ruscitti P, Sota J, Vitale A, Lopalco G, Iannone F, Morrone M, Giardini HAM, D'Agostin MA, Antonelli IPB, Almaghlouth I, Asfina KN, Khalil N, Sfikakis PP, Laskari K, Tektonidou M, Ciccia F, Iacono D, Riccio F, Ragab G, Hussein MA, Govoni M, Ruffilli F, Direskeneli H, Alibaz-Oner F, Giacomelli R, Navarini L, Bartoloni E, Riccucci I, Martín-Nares E, Torres-Ruiz J, Cipriani P, Di Cola I, Hernández-Rodríguez J, Gómez-Caverzaschi V, Dagna L, Tomelleri A, Makowska J, Brzezinska O, Iagnocco A, Bellis E, Caggiano V, Gaggiano C, Tarsia M, Mormile I, Emmi G, Sfriso P, Monti S, Erten Ş, Del Giudice E, Lubrano R, Conti G, Olivieri AN, Lo Gullo A, Tharwat S, Karamanakos A, Gidaro A, Maggio MC, La Torre F, Cardinale F, Ogunjimi B, Maier A, Sebastiani GD, Opris-Belinski D, Frassi M, Viapiana O, Bizzi E, Carubbi F, Fotis L, Tufan A, Kardas RC, Więsik-Szewczyk E, Jahnz-Różyk K, Fabiani C, Frediani B, Balistreri A, Rigante D (ORCID:0000-0001-7032-7779), Cantarini L, 362., Ruscitti P, Sota, J, Vitale, A, Lopalco, G, Iannone, F, Morrone, M, Giardini, Ham, D'Agostin, Ma, Antonelli, Ipb, Almaghlouth, I, Asfina, Kn, Khalil, N, Sfikakis, Pp, Laskari, K, Tektonidou, M, Ciccia, F, Iacono, D, Riccio, F, Ragab, G, Hussein, Ma, Govoni, M, Ruffilli, F, Direskeneli, H, Alibaz-Oner, F, Giacomelli, R, Navarini, L, Bartoloni, E, Riccucci, I, Martín-Nares, E, Torres-Ruiz, J, Cipriani, P, Di Cola, I, Hernández-Rodríguez, J, Gómez-Caverzaschi, V, Dagna, L, Tomelleri, A, Makowska, J, Brzezinska, O, Iagnocco, A, Bellis, E, Caggiano, V, Gaggiano, C, Tarsia, M, Mormile, I, Emmi, G, Sfriso, P, Monti, S, Erten, Ş, Del Giudice, E, Lubrano, R, Conti, G, Olivieri, An, Lo Gullo, A, Tharwat, S, Karamanakos, A, Gidaro, A, Maggio, Mc, La Torre, F, Cardinale, F, Ogunjimi, B, Maier, A, Sebastiani, Gd, Opris-Belinski, D, Frassi, M, Viapiana, O, Bizzi, E, Carubbi, F, Fotis, L, Tufan, A, Kardas, Rc, Więsik-Szewczyk, E, Jahnz-Różyk, K, Fabiani, C, Frediani, B, Balistreri, A, Rigante, Donato, Cantarini, L, 362. Ruscitti P, Sota J, Vitale A, Lopalco G, Iannone F, Morrone M, Giardini HAM, D'Agostin MA, Antonelli IPB, Almaghlouth I, Asfina KN, Khalil N, Sfikakis PP, Laskari K, Tektonidou M, Ciccia F, Iacono D, Riccio F, Ragab G, Hussein MA, Govoni M, Ruffilli F, Direskeneli H, Alibaz-Oner F, Giacomelli R, Navarini L, Bartoloni E, Riccucci I, Martín-Nares E, Torres-Ruiz J, Cipriani P, Di Cola I, Hernández-Rodríguez J, Gómez-Caverzaschi V, Dagna L, Tomelleri A, Makowska J, Brzezinska O, Iagnocco A, Bellis E, Caggiano V, Gaggiano C, Tarsia M, Mormile I, Emmi G, Sfriso P, Monti S, Erten Ş, Del Giudice E, Lubrano R, Conti G, Olivieri AN, Lo Gullo A, Tharwat S, Karamanakos A, Gidaro A, Maggio MC, La Torre F, Cardinale F, Ogunjimi B, Maier A, Sebastiani GD, Opris-Belinski D, Frassi M, Viapiana O, Bizzi E, Carubbi F, Fotis L, Tufan A, Kardas RC, Więsik-Szewczyk E, Jahnz-Różyk K, Fabiani C, Frediani B, Balistreri A, Rigante D (ORCID:0000-0001-7032-7779), and Cantarini L

Abstract

Objectives: To describe clinical characteristics of patients with Still's disease treated with methotrexate (MTX) and to assess drug effectiveness evaluating change in disease activity, reduction of inflammatory markers, and glucocorticoid (GC)-sparing effect. Methods: Patients with Still's disease treated with MTX were assessed among those included in AIDA Network Still Disease Registry. Results: In this registry, 171 patients with Still's disease were treated with MTX (males 43.3%, age 37.1 ± 16.0 years). They were mainly characterised by joint features and fever without a prominent multiorgan involvement. MTX was administered with GCs in 68.4% of patients, with other conventional synthetic DMARDs in 6.4%, and with biologic DMARDs in 25.1%. A significant reduction of the modified systemic score was observed, and 38.6% patients were codified as being in clinical remission at the end of follow-up. The concomitant administration of a biologic DMARD resulted a predictor of the clinical remission. Furthermore, a reduction of inflammatory markers and ferritin levels was observed following the administration of MTX. Additionally, a marked reduction of the dosage of concomitant GCs was identified, while 36.7% discontinued such drugs. Male gender appeared as a predictor of GC discontinuation. MTX was discontinued in 12.3% of patients because of adverse effects, and in 12.3% for lack of efficacy. Conclusions: Clinical characteristics of patients with Still's disease treated with MTX were described, mainly joint features and fever without a prominent multiorgan involvement. The clinical usefulness of MTX was reported in reducing the disease activity, decreasing the inflammatory markers, and as GC-sparing agent.

Published
2023

8. The AutoInflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

Author

Gaggiano, C, Vitale, A, Tufan, A, Ragab, G, Aragona, E, Wiesik-Szewczyk, E, Ait-Idir, D, Conti, G, Iezzi, L, Maggio, Mc, Cattalini, M, La Torre, F, Lopalco, G, Verrecchia, E, de Paulis, A, Sahin, A, Insalaco, A, Sfikakis, Pp, Marino, A, Frassi, M, Ogunjimi, B, Opris-Belinski, D, Parronchi, P, Emmi, G, Shahram, F, Ciccia, F, Piga, M, Hernández-Rodríguez, J, Pereira, Rmr, Alessio, M, Naddei, R, Olivieri, An, Giudice, Ed, Sfriso, P, Ruscitti, P, Gobbi, Fl, Kucuk, H, Sota, J, Hussein, Ma, Malizia, G, Jahnz-Różyk, K, Sari-Hamidou, R, Romeo, M, Ricci, F, Cardinale, F, Iannone, F, Casa, Fd, Natale, Mf, Laskari, K, Giani, T, Franceschini, F, Sabato, V, Yildirim, D, Caggiano, V, Hegazy, Mt, Marzo, Rd, Kucharczyk, A, Khellaf, G, Tarsia, M, Almaghlouth, Ia, Laymouna, Ah, Mastrorilli, V, Dotta, L, Benacquista, L, Grosso, S, Crisafulli, F, Parretti, V, Giordano, Hf, Mahmoud, Aaa, Nuzzolese, R, Musso, M, Chighizola, Cb, Gentileschi, S, Morrone, M, Cola, Id, Spedicato, V, Giardini, Ham, Vasi, I, Renieri, A, Fabbiani, A, Mencarelli, Ma, Frediani, B, Balistreri, A, Tosi, Gm, Fabiani, C, Lidar, M, Rigante, D, Cantarini, L, Gaggiano C, Vitale A, Tufan A, Ragab G, Aragona E, Wiesik-Szewczyk E, Ait-Idir D, Iezzi L, Maggio MC, Cattalini M, La Torre F, Lopalco G, Verrecchia E, de Paulis A, Sahin A, Insalaco A, Sfikakis PP, Marino A, Frassi M, Ogunjimi B, Opris-Belinski D, Parronchi P, Emmi G, Shahram F, Ciccia F, Piga M, Hernández-Rodríguez J, Pereira RMR, Alessio M, Naddei R, Olivieri AN, Giudice ED, Sfriso P, Ruscitti P, Gobbi FL, Kucuk H, Sota J, Hussein MA, Malizia G, Jahnz-Różyk K, Sari-Hamidou R, Romeo M, Ricci F, Cardinale F, Iannone F, Casa FD, Natale MF, Laskari K, Giani T, Franceschini F, Sabato V, Yildirim D, Caggiano V, Hegazy MT, Marzo RD, Kucharczyk A, Khellaf G, Tarsia M, Almaghlouth IA, Laymouna AH, Mastrorilli V, Dotta L, Benacquista L, Grosso S, Crisafulli F, Parretti V, Giordano HF, Mahmoud AAA, Nuzzolese R, Musso M, Chighizola CB, Gentileschi S, Morrone M, Cola ID, Spedicato V, Giardini HAM, Vasi I, Renieri A, Fabbiani A, Mencarelli MA, Frediani B, Balistreri A, Tosi GM, Fabiani C, Lidar M, Rigante D (ORCID:0000-0001-7032-7779), Cantarini L, Conti G, Gaggiano, C, Vitale, A, Tufan, A, Ragab, G, Aragona, E, Wiesik-Szewczyk, E, Ait-Idir, D, Conti, G, Iezzi, L, Maggio, Mc, Cattalini, M, La Torre, F, Lopalco, G, Verrecchia, E, de Paulis, A, Sahin, A, Insalaco, A, Sfikakis, Pp, Marino, A, Frassi, M, Ogunjimi, B, Opris-Belinski, D, Parronchi, P, Emmi, G, Shahram, F, Ciccia, F, Piga, M, Hernández-Rodríguez, J, Pereira, Rmr, Alessio, M, Naddei, R, Olivieri, An, Giudice, Ed, Sfriso, P, Ruscitti, P, Gobbi, Fl, Kucuk, H, Sota, J, Hussein, Ma, Malizia, G, Jahnz-Różyk, K, Sari-Hamidou, R, Romeo, M, Ricci, F, Cardinale, F, Iannone, F, Casa, Fd, Natale, Mf, Laskari, K, Giani, T, Franceschini, F, Sabato, V, Yildirim, D, Caggiano, V, Hegazy, Mt, Marzo, Rd, Kucharczyk, A, Khellaf, G, Tarsia, M, Almaghlouth, Ia, Laymouna, Ah, Mastrorilli, V, Dotta, L, Benacquista, L, Grosso, S, Crisafulli, F, Parretti, V, Giordano, Hf, Mahmoud, Aaa, Nuzzolese, R, Musso, M, Chighizola, Cb, Gentileschi, S, Morrone, M, Cola, Id, Spedicato, V, Giardini, Ham, Vasi, I, Renieri, A, Fabbiani, A, Mencarelli, Ma, Frediani, B, Balistreri, A, Tosi, Gm, Fabiani, C, Lidar, M, Rigante, D, Cantarini, L, Gaggiano C, Vitale A, Tufan A, Ragab G, Aragona E, Wiesik-Szewczyk E, Ait-Idir D, Iezzi L, Maggio MC, Cattalini M, La Torre F, Lopalco G, Verrecchia E, de Paulis A, Sahin A, Insalaco A, Sfikakis PP, Marino A, Frassi M, Ogunjimi B, Opris-Belinski D, Parronchi P, Emmi G, Shahram F, Ciccia F, Piga M, Hernández-Rodríguez J, Pereira RMR, Alessio M, Naddei R, Olivieri AN, Giudice ED, Sfriso P, Ruscitti P, Gobbi FL, Kucuk H, Sota J, Hussein MA, Malizia G, Jahnz-Różyk K, Sari-Hamidou R, Romeo M, Ricci F, Cardinale F, Iannone F, Casa FD, Natale MF, Laskari K, Giani T, Franceschini F, Sabato V, Yildirim D, Caggiano V, Hegazy MT, Marzo RD, Kucharczyk A, Khellaf G, Tarsia M, Almaghlouth IA, Laymouna AH, Mastrorilli V, Dotta L, Benacquista L, Grosso S, Crisafulli F, Parretti V, Giordano HF, Mahmoud AAA, Nuzzolese R, Musso M, Chighizola CB, Gentileschi S, Morrone M, Cola ID, Spedicato V, Giardini HAM, Vasi I, Renieri A, Fabbiani A, Mencarelli MA, Frediani B, Balistreri A, Tosi GM, Fabiani C, Lidar M, Rigante D (ORCID:0000-0001-7032-7779), Cantarini L, and Conti G

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. NCT 05200715 available at https://clinicaltrials.gov

Published
2022

10. OP0102 IDENTIFICATION OF NEW RISK LOCI AND PATHWAYS INVOLVED IN GCA PATHOGENESIS BY A GENOME-WIDE STUDY

Author

Borrego-Yaniz, G., primary, Ortiz-Fernández, L., additional, Kerick, M., additional, Madrid-Paredes, A., additional, Vaglio, A., additional, Hernández-Rodríguez, J., additional, Mackie, S., additional, Castañeda, S., additional, Solans-Laqué, R., additional, Mestre, J., additional, Dasgupta, B., additional, Watts, R., additional, Khalidi, N., additional, Langford, C., additional, Ytterberg, S. R., additional, Beretta, L., additional, Govoni, M., additional, Emmi, G., additional, Cimmino, M. A., additional, Witte, T., additional, Neumann, T., additional, Holle, J., additional, Schönau, V., additional, Pugnet, G., additional, Papo, T., additional, Haroche, J., additional, Mahr, A., additional, Mouthon, L., additional, Molberg, Ø., additional, Diamantopoulos, A., additional, Voskuyl, A., additional, Daikeler, T., additional, Berger, C., additional, Molloy, E., additional, Blockmans, D., additional, Consortium, U. G., additional, Gca Consortium, I., additional, Ortego, N., additional, Brouwer, E., additional, Lamprecht, P., additional, Klapa, S., additional, Salvarani, C., additional, Merkel, P. A., additional, Cid, M. C., additional, González-Gay, M. A., additional, Morgan, A., additional, Martin Ibanez, J., additional, and Márquez, A., additional

Published
2023
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11. POS0093 TRANSCRIPTOMIC AND METHYLOMIC PROFILING OF CD4+ T-CELLS IN GIANT CELL ARTERITIS WITH DIFFERENT DISEASE ACTIVITY

Author

Estupiñán-Moreno, E., primary, Hernández-Rodríguez, J., additional, LI, T., additional, Ciudad, L., additional, Andrés-León, E., additional, Terron-Camero, L. C., additional, Prieto-González, S., additional, Espígol-Frigolé, G., additional, Cid, M. C., additional, Márquez, A., additional, Martin Ibanez, J., additional, Ballestar, E., additional, and Ortiz-Fernández, L., additional

Published
2023
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13. Axial spondyloarthritis in patients with recurrent fever attacks: data from the AIDA network registry for undifferentiated autoinflammatory diseases (USAIDs)

Author

Vitale, A, Caggiano, V, Silva, I, Oliveira, Dg, Ruscitti, P, Ciccia, F, Vasi, I, Tufan, A, Lopalco, G, Almaghlouth, Ia, Sota, J, Wiesik-Szewczyk, E, Gaggiano, C, Giardini, Ham, Spedicato, V, Ragab, G, Iannone, F, Balistreri, A, Frassi, M, Hernández-Rodríguez, J, Fabiani, C, Falsetti, P, Di Meglio, N, Frediani, B, Mazzei, Ma, Rigante, Donato, Faria, R, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Vitale, A, Caggiano, V, Silva, I, Oliveira, Dg, Ruscitti, P, Ciccia, F, Vasi, I, Tufan, A, Lopalco, G, Almaghlouth, Ia, Sota, J, Wiesik-Szewczyk, E, Gaggiano, C, Giardini, Ham, Spedicato, V, Ragab, G, Iannone, F, Balistreri, A, Frassi, M, Hernández-Rodríguez, J, Fabiani, C, Falsetti, P, Di Meglio, N, Frediani, B, Mazzei, Ma, Rigante, Donato, Faria, R, Cantarini, L, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

Background: Despite the recent advances in the field of autoinflammatory diseases, most patients with recurrent fever episodes do not have any defined diagnosis. The present study aims at describing a cohort of patients suffering from apparently unexplained recurrent fever, in whom non-radiographic axial spondylarthritis (SpA) represented the unique diagnosis identified after a complete clinical and radiologic assessment. Materials and methods: Patients' data were obtained from the international registry on Undifferentiated Systemic AutoInflammatory Diseases (USAIDs) developed by the AutoInflammatory Disease Alliance (AIDA) network. Results: A total of 54 patients with recurrent fever episodes were also affected by non-radiographic axial SpA according to the international classification criteria. SpA was diagnosed after the start of fever episodes in all cases; the mean age at the diagnosis of axial SpA was 39.9 ± 14.8 years with a diagnostic delay of 9.3 years. The highest body temperature reached during flares was 42°C, with a mean temperature of 38.8 ± 1.1°C. The most frequent manifestations associated to fever were: arthralgia in 33 (61.1%) cases, myalgia in 24 (44.4%) cases, arthritis in 22 (40.7%) cases, headache in 15 (27.8%) cases, diarrhea in 14 (25.9%) cases, abdominal pain in 13 (24.1%) cases, and skin rash in 12 (22.1%) cases. Twenty-four (44.4%) patients have taken daily or on-demand non-steroidal anti-inflammatory drugs (NSAIDs) and 31 (57.4%) patients have been treated with daily or on demand oral glucocorticoids. Colchicine was used in 28 (51.8%) patients, while other conventional disease modifying anti-rheumatic drugs (cDMARDs) were employed in 28 (51.8%) patients. Forty (74.1%) patients underwent anti-tumor necrosis factor (TNF) agents and 11 (20.4%) were treated with interleukin (IL)-1 inhibitors. The response to TNF inhibitors on recurrent fever episodes appeared more effective than that observed with anti-IL-1 agents; colchicine and other cDMARD

Published
2023

14. A patient-driven registry on Behçet's disease: the AIDA for patients pilot project

Author

Gaggiano, C, Del Bianco, A, Sota, J, Gentileschi, S, Ruscitti, P, Giacomelli, R, Piga, M, Crisafulli, F, Monti, S, Emmi, G, De Paulis, A, Vitale, A, Tarsia, M, Caggiano, V, Nuzzolese, R, Parretti, V, Fabiani, C, Lopalco, G, Maier, A, Cattalini, M, Rigante, Donato, Govoni, M, Li Gobbi, F, Guiducci, S, Parronchi, P, Marino, A, Ciccia, F, Maggio, Mc, Aragona, E, Bartoloni, E, Iagnocco, A, Viapiana, O, Sebastiani, Gd, Guerriero, S, Insalaco, A, Del Giudice, E, Conti, G, Barone, P, Olivieri, An, Brucato, A, Carubbi, F, Triggianese, P, Mauro, A, Tosi, Gm, Fonollosa, A, Giardini, Ham, Ragab, G, Tharwat, S, Hernández-Rodríguez, J, Sfikakis, Pp, Laskari, K, Karamanakos, A, Espinosa, G, Shahram, F, Direskeneli, H, Hinojosa-Azaola, A, Opris-Belinski, D, Almaghlouth, Ia, Hatemi, G, Eksin, Ma, Önen, F, Więsik-Szewczyk, E, Akkoç, N, Tufan, A, Şahin, A, Erten, Ş, Ozen, S, Batu, Ed, Frediani, B, Balistreri, A, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Gaggiano, C, Del Bianco, A, Sota, J, Gentileschi, S, Ruscitti, P, Giacomelli, R, Piga, M, Crisafulli, F, Monti, S, Emmi, G, De Paulis, A, Vitale, A, Tarsia, M, Caggiano, V, Nuzzolese, R, Parretti, V, Fabiani, C, Lopalco, G, Maier, A, Cattalini, M, Rigante, Donato, Govoni, M, Li Gobbi, F, Guiducci, S, Parronchi, P, Marino, A, Ciccia, F, Maggio, Mc, Aragona, E, Bartoloni, E, Iagnocco, A, Viapiana, O, Sebastiani, Gd, Guerriero, S, Insalaco, A, Del Giudice, E, Conti, G, Barone, P, Olivieri, An, Brucato, A, Carubbi, F, Triggianese, P, Mauro, A, Tosi, Gm, Fonollosa, A, Giardini, Ham, Ragab, G, Tharwat, S, Hernández-Rodríguez, J, Sfikakis, Pp, Laskari, K, Karamanakos, A, Espinosa, G, Shahram, F, Direskeneli, H, Hinojosa-Azaola, A, Opris-Belinski, D, Almaghlouth, Ia, Hatemi, G, Eksin, Ma, Önen, F, Więsik-Szewczyk, E, Akkoç, N, Tufan, A, Şahin, A, Erten, Ş, Ozen, S, Batu, Ed, Frediani, B, Balistreri, A, Cantarini, L, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

Introduction: This paper describes the creation and preliminary results of a patient-driven registry for the collection of patient-reported outcomes (PROs) and patient-reported experiences (PREs) in Behçet’s disease (BD). Methods: The project was coordinated by the University of Siena and the Italian patient advocacy organization SIMBA (Associazione Italiana Sindrome e Malattia di Behçet), in the context of the AIDA (AutoInflammatory Diseases Alliance) Network programme. Quality of life, fatigue, socioeconomic impact of the disease and therapeutic adherence were selected as core domains to include in the registry. Results: Respondents were reached via SIMBA communication channels in 167 cases (83.5%) and the AIDA Network affiliated clinical centers in 33 cases (16.5%). The median value of the Behçet’s Disease Quality of Life (BDQoL) score was 14 (IQR 11, range 0–30), indicating a medium quality of life, and the median Global Fatigue Index (GFI) was 38.7 (IQR 10.9, range 1–50), expressing a significant level of fatigue. The mean Beliefs about Medicines Questionnaire (BMQ) necessity-concern differential was 0.9 ± 1.1 (range – 1.8–4), showing that the registry participants prioritized necessity belief over concerns to a limited extent. As for the socioeconomic impact of BD, in 104 out of 187 cases (55.6%), patients had to pay from their own pocket for medical exams required to reach the diagnosis. The low family socioeconomic status (p < 0.001), the presence of any major organ involvement (p < 0.031), the presence of gastro-intestinal (p < 0.001), neurological (p = 0.012) and musculoskeletal (p = 0.022) symptoms, recurrent fever (p = 0.002), and headache (p < 0.001) were associated to a higher number of accesses to the healthcare system. Multiple linear regression showed that the BDQoL score could significantly predict the global socioeconomic impact of BD (F = 14.519, OR 1.162 [CI 0.557–1.766], p < 0.001). Discussion: Preliminary results from the AID

Published
2023

15. Musculoskeletal manifestations in children with Behçet's syndrome: data from the AIDA Network Behçet's Syndrome Registry

Author

Gaggiano, C, Maselli, A, Sfikakis, Pp, Laskari, K, Ragab, G, Hegazy, Mt, Laymouna, Ah, Lopalco, G, Almaghlouth, Ia, Asfina, Kn, Alahmed, O, Giardini Mayrink, Ha, Parente de Brito Antonelli, I, Cattalini, M, Piga, M, Sota, J, Gentileschi, S, Maggio, Mc, Opris-Belinski, D, Hatemi, G, Insalaco, A, Olivieri, An, Tufan, A, Karadeniz, H, Kardaş, Rc, La Torre, F, Cardinale, F, Marino, A, Guerriero, S, Ruscitti, P, Tarsia, M, Vitale, A, Caggiano, V, Telesca, S, Iannone, F, Parretti, V, Frassi, M, Aragona, E, Ciccia, F, Wiesik-Szewczyk, E, Ionescu, R, Şahin, A, Akkoç, N, Hinojosa-Azaola, A, Tharwat, S, Hernández-Rodríguez, J, Espinosa, G, Conti, G, Del Giudice, E, Govoni, M, Emmi, G, Fabiani, C, Balistreri, A, Frediani, B, Rigante, Donato, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Gaggiano, C, Maselli, A, Sfikakis, Pp, Laskari, K, Ragab, G, Hegazy, Mt, Laymouna, Ah, Lopalco, G, Almaghlouth, Ia, Asfina, Kn, Alahmed, O, Giardini Mayrink, Ha, Parente de Brito Antonelli, I, Cattalini, M, Piga, M, Sota, J, Gentileschi, S, Maggio, Mc, Opris-Belinski, D, Hatemi, G, Insalaco, A, Olivieri, An, Tufan, A, Karadeniz, H, Kardaş, Rc, La Torre, F, Cardinale, F, Marino, A, Guerriero, S, Ruscitti, P, Tarsia, M, Vitale, A, Caggiano, V, Telesca, S, Iannone, F, Parretti, V, Frassi, M, Aragona, E, Ciccia, F, Wiesik-Szewczyk, E, Ionescu, R, Şahin, A, Akkoç, N, Hinojosa-Azaola, A, Tharwat, S, Hernández-Rodríguez, J, Espinosa, G, Conti, G, Del Giudice, E, Govoni, M, Emmi, G, Fabiani, C, Balistreri, A, Frediani, B, Rigante, Donato, Cantarini, L, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

This study aims to describe musculoskeletal manifestations (MSM) in children with Behçet’s syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet’s Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onset (26.2%). The median age at onset was 10.0 years (IQR 7.7). The median follow-up duration was 21.8 years (IQR 23.3). Recurrent oral (100%) and genital ulcers (67.6%) and pseudofolliculitis (56.8%) were the most common symptoms associated with MSM. At disease onset, 31 subjects had arthritis (83.8%), 33 arthralgia (89.2%), and 14 myalgia (37.8%). Arthritis was monoarticular in 9/31 cases (29%), oligoarticular in 10 (32.3%), polyarticular in 5 (16.1%), axial in 7 (22.6%). Over time, arthritis became chronic-recurrent in 67.7% of cases and 7/31 patients had joint erosions (22.6%). The median Behçet's Syndrome Overall Damage Index was 0 (range 0–4). Colchicine was inefcacious for MSM in 4/14 cases (28.6%), independently from the type of MSM (p=0.46) or the concomitant therapy (p=0.30 for cDMARDs, p=1.00 for glucocorticoids); cDMARDs and bDMARDs were inefcacious for MSM in 6/19 (31.4%) and 5/12 (41.7%) cases. The presence of myalgia was associated with bDMARDs inefcacy (p=0.014). To conclude, MSM in children with BS are frequently associated with recurrent ulcers and pseudofolliculitis. Arthritis is mostly mono- or oligoarticular, but sacroiliitis is not unusual. Prognosis of this subset of BS is overall favorable, though the presence of myalgia negatively afects response to biologic therapies.

Published
2023

16. Efficacy and Safety of Adalimumab in Pediatric Non-infectious Non-anterior Uveitis: Real-life Experience From the International AIDA Network Uveitis Registry

Author

Vitale, A., Casa, F. D., Guerriero, S., Ragab, G., Mauro, A., Caggiano, V., Cattalini, M., Del Giudice, E., Favale, R., Gaggiano, C., Bellicini, I., Paroli, M. P., Hegazy, M. T., Sota, J., Tufan, A., Balistreri, A., Almaghlouth, I., La Torre, F., Więsik-Szewczyk, E., Tarsia, M., Hinojosa-Azaola, A., Martín-Nares, E., Frediani, B., Tosi, G. M., Fonollosa, A., Hernández-Rodríguez, J., Amin, R. H., Lopalco, G., Rigante, Donato, Cantarini, L., Fabiani, C., Rigante D. (ORCID:0000-0001-7032-7779), Vitale, A., Casa, F. D., Guerriero, S., Ragab, G., Mauro, A., Caggiano, V., Cattalini, M., Del Giudice, E., Favale, R., Gaggiano, C., Bellicini, I., Paroli, M. P., Hegazy, M. T., Sota, J., Tufan, A., Balistreri, A., Almaghlouth, I., La Torre, F., Więsik-Szewczyk, E., Tarsia, M., Hinojosa-Azaola, A., Martín-Nares, E., Frediani, B., Tosi, G. M., Fonollosa, A., Hernández-Rodríguez, J., Amin, R. H., Lopalco, G., Rigante, Donato, Cantarini, L., Fabiani, C., and Rigante D. (ORCID:0000-0001-7032-7779)

Abstract

Introduction: Scientific evidence of the effectiveness of the tumor necrosis factor inhibitor adalimumab (ADA) in pediatric patients with non-infectious non-anterior uveitis is still limited. The aim of this study is to investigate the therapeutic role of ADA in a cohort of pediatric patients with non-anterior uveitis. MethodsThis is an international multicenter study analyzing real-life data referred to pediatric patients treated with ADA for intermediate uveitis/pars planitis, posterior uveitis and panuveitis. Data were drawn from the AutoInflammatory Disease Alliance (AIDA) registry for patients with uveitis. ResultsTwenty-one patients (36 affected eyes) were enrolled, and all patients benefited from ADA administration. In detail, 11 patients (19 affected eyes) did not experience further ocular inflammation after ADA introduction; 10 cases (17 affected eyes) showed a significant clinical improvement consisting of a decrease in severity and/or frequency of ocular relapses. The number of ocular flares dropped from 3.91 to 1.1 events/patient/year after ADA introduction (p = 0.0009); macular edema and retinal vasculitis were respectively observed in 18 eyes and 20 eyes at the start of ADA and in 4 eyes and 2 eyes at the last assessment. The mean daily glucocorticoid dosage significantly decreased from 26.8 +/- 16.8 mg/day at the start of ADA to 6.25 +/- 6.35 mg/day at the last assessment (p = 0.002). Intermediate uveitis/pars planitis (p = 0.01) and posterior uveitis (p = 0.03) were more frequently observed in patients with full response to ADA; panuveitis (p = 0.001) was significantly more frequent among patients continuing to experience uveitic flares. This could be related to a higher use of systemic glucocorticoids (p = 0.002) and conventional immunosuppressants (p = 0.007) at the start of ADA when treating intermediate uveitis/pars planitis. Regarding the safety profile, only one adverse event was reported during ADA treatment, consisting of the development of g

Published
2023

17. Efficacy and safety of oral sirolimus for high-flow vascular malformations in real clinical practice

Author

Durán‐Romero, A. J., Hernández-Rodríguez, J. C., Ortiz-Álvarez, J., Domínguez-Cruz, Javier Jesús, Monserrat-García, M. T., Conejo-Mir, Julián, Bernabeu Wittel, Máximo, Durán‐Romero, A. J., Hernández-Rodríguez, J. C., Ortiz-Álvarez, J., Domínguez-Cruz, Javier Jesús, Monserrat-García, M. T., Conejo-Mir, Julián, and Bernabeu Wittel, Máximo

Abstract

[Background] Vascular malformations are a complex pathology with few treatment options. In previously published studies, oral sirolimus (rapamycin) has shown promising results in the treatment of low-flow vascular malformations, but its usefulness in high-flow vascular malformations is controversial., [Aim] To evaluate the efficacy and safety of sirolimus for the treatment of high-flow vascular malformations in real-life practice., [Methods] In a unit specializing in vascular anomalies, patients treated with oral sirolimus for high-flow vascular malformations were located by consulting the drug dispensations. Reviewing the electronic medical records, data on patient demographics, vascular malformation characteristics, treatments, toxicity and clinical course were collected and statistically analysed., [Results] Nine patients with vascular malformations were included: eight had arteriovenous malformation and one had arteriovenous fistula. Six of these malformations were isolated while three were part of a syndrome. Sirolimus was initiated at a dosage of 1–4 mg/day to be taken as a single dose. Partial response was observed in eight of the nine patients (88.9%) with high-flow vascular malformation, while worsening was observed in the remaining patient. The treatment was well tolerated and at the most recent follow-up, five patients remained on treatment with oral sirolimus., [Conclusion] Our results show that oral sirolimus is a well-tolerated therapeutic option, with an excellent safety profile, which can be useful in the long-term stabilization of patients with high-flow vascular malformations. Single-daily dosage may improve long-term adherence to treatment without worsening its effectiveness.

Published
2022

18. Development and implementation of the AIDA International Registry for patients with Behçet's disease

Author

Vitale, A, Della Casa, F, Ragab, G, Almaghlouth, Ia, Lopalco, G, Pereira, Rm, Guerriero, S, Govoni, M, Sfikakis, Pp, Giacomelli, R, Ciccia, F, Monti, S, Ruscitti, P, Piga, M, Lomater, C, Tufan, A, Opris-Belinski, D, Emmi, G, Hernández-Rodríguez, J, Şahin, A, Sebastiani, Gd, Bartoloni, E, Akkoç, N, Gündüz, Ö, Cattalini, M, Conti, Giorgio, Hatemi, G, Maier, A, Parronchi, P, Del Giudice, E, Erten, S, Insalaco, A, Li Gobbi, F, Maggio, Mc, Shahram, F, Caggiano, V, Hegazy, Mt, Asfina, Kn, Morrone, M, Prado, Ll, Dammacco, R, Ruffilli, F, Arida, A, Navarini, L, Pantano, I, Cavagna, L, Conforti, A, Cauli, A, Marucco, Em, Kucuk, H, Ionescu, R, Mattioli, I, Espinosa, G, Araújo, O, Karkaş, B, Canofari, C, Sota, J, Laymouna, Ah, Bedaiwi, Aa, Colella, S, Giardini, Ham, Albano, V, Lo Monaco, A, Fragoulis, Ge, Kardas, Rc, Berlengiero, V, Hussein, Ma, Ricci, F, La Torre, F, Rigante, Donato, Więsik-Szewczyk, E, Frassi, M, Gentileschi, S, Tosi, Gm, Dagostin, Ma, Mahmoud, Aaa, Tarsia, M, Alessio, G, Cimaz, R, Giani, T, Gaggiano, C, Iannone, F, Cipriani, P, Mourabi, M, Spedicato, V, Barneschi, S, Aragona, E, Balistreri, A, Frediani, B, Fabiani, C, Cantarini, L &amp, Autoinflammatory Diseases Alliance (AIDA), Network, Conti G (ORCID:0000-0002-8566-9365), Rigante D (ORCID:0000-0001-7032-7779), Vitale, A, Della Casa, F, Ragab, G, Almaghlouth, Ia, Lopalco, G, Pereira, Rm, Guerriero, S, Govoni, M, Sfikakis, Pp, Giacomelli, R, Ciccia, F, Monti, S, Ruscitti, P, Piga, M, Lomater, C, Tufan, A, Opris-Belinski, D, Emmi, G, Hernández-Rodríguez, J, Şahin, A, Sebastiani, Gd, Bartoloni, E, Akkoç, N, Gündüz, Ö, Cattalini, M, Conti, Giorgio, Hatemi, G, Maier, A, Parronchi, P, Del Giudice, E, Erten, S, Insalaco, A, Li Gobbi, F, Maggio, Mc, Shahram, F, Caggiano, V, Hegazy, Mt, Asfina, Kn, Morrone, M, Prado, Ll, Dammacco, R, Ruffilli, F, Arida, A, Navarini, L, Pantano, I, Cavagna, L, Conforti, A, Cauli, A, Marucco, Em, Kucuk, H, Ionescu, R, Mattioli, I, Espinosa, G, Araújo, O, Karkaş, B, Canofari, C, Sota, J, Laymouna, Ah, Bedaiwi, Aa, Colella, S, Giardini, Ham, Albano, V, Lo Monaco, A, Fragoulis, Ge, Kardas, Rc, Berlengiero, V, Hussein, Ma, Ricci, F, La Torre, F, Rigante, Donato, Więsik-Szewczyk, E, Frassi, M, Gentileschi, S, Tosi, Gm, Dagostin, Ma, Mahmoud, Aaa, Tarsia, M, Alessio, G, Cimaz, R, Giani, T, Gaggiano, C, Iannone, F, Cipriani, P, Mourabi, M, Spedicato, V, Barneschi, S, Aragona, E, Balistreri, A, Frediani, B, Fabiani, C, Cantarini, L &amp, Autoinflammatory Diseases Alliance (AIDA), Network, Conti G (ORCID:0000-0002-8566-9365), and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

Objective: Purpose of the present paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients with Behçet’s disease (BD). Methods: The Registry is a clinical physician-driven population- and electronic-based instrument implemented for the retrospective and prospective collection of real-life data about demographics, clinical, therapeutic, laboratory, instrumental and socioeconomic information from BD patients; the Registry is based on the Research Electronic Data Capture (REDCap) tool, which is thought to collect standardised information for clinical real-life research, and has been realised to change over time according to future scientific acquisitions and potentially communicate with other existing and future Registries dedicated to BD. Results: Starting from January 31st to November 23rd, 2021, 99 centres from 20 countries in 4 continents have been involved. Forty-eight of these have already obtained the approval from their local Ethics Committees. Currently, the platform counts 265 users (99 Principal Investigators, 162 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry collects baseline and follow-up data using 5474 fields organised into 15 instruments, including patient’s demographics, history, clinical manifestations and symptoms, trigger/risk factors, therapies and healthcare access. Conclusions: The development of the AIDA International Registry for BD patients will facilitate the collection of standardised data leading to real-world evidence, enabling international multicentre collaborative research through data sharing, international consultation, dissemination of knowledge, inclusion of patients and families, and ultimately optimisation of scientific efforts and implementation of standardised care.

Published
2022

19. Development and implementation of the AIDA International Registry for patients with VEXAS syndrome

Author

Vitale, A, Caggiano, V, Della Casa, F, Hernández-Rodríguez, J, Frassi, M, Monti, S, Tufan, A, Telesca, S, Conticini, E, Ragab, G, Lopalco, G, Almaghlouth, I, Pereira, Rmr, Yildirim, D, Cattalini, M, Marino, A, Giani, T, La Torre, F, Ruscitti, P, Aragona, E, Wiesik-Szewczyk, E, Del Giudice, E, Sfikakis, Pp, Govoni, M, Emmi, G, Maggio, Mc, Giacomelli, R, Ciccia, F, Conti, Giorgio, Ait-Idir, D, Lomater, C, Sabato, V, Piga, M, Sahin, A, Opris-Belinski, D, Ionescu, R, Bartoloni, E, Franceschini, F, Parronchi, P, de Paulis, A, Espinosa, G, Maier, A, Sebastiani, Gd, Insalaco, A, Shahram, F, Sfriso, P, Minoia, F, Alessio, M, Makowska, J, Hatemi, G, Akkoç, N, Li Gobbi, F, Gidaro, A, Olivieri, An, Al-Mayouf, Sm, Erten, S, Gentileschi, S, Vasi, I, Tarsia, M, Mahmoud, Aaa, Frediani, B, Fares Alzahrani, M, Laymouna, Ah, Ricci, F, Cardinale, F, Jahnz-Rózyk, K, Tosi, Gm, Crisafulli, F, Balistreri, A, Dagostin, Ma, Ghanema, M, Gaggiano, C, Sota, J, Di Cola, I, Fabiani, C, Giardini, Ham, Renieri, A, Fabbiani, A, Carrer, A, Bocchia, M, Caroni, F, Rigante, Donato, Cantarini, L, Conti G (ORCID:0000-0002-8566-9365), Rigante D (ORCID:0000-0001-7032-7779), Vitale, A, Caggiano, V, Della Casa, F, Hernández-Rodríguez, J, Frassi, M, Monti, S, Tufan, A, Telesca, S, Conticini, E, Ragab, G, Lopalco, G, Almaghlouth, I, Pereira, Rmr, Yildirim, D, Cattalini, M, Marino, A, Giani, T, La Torre, F, Ruscitti, P, Aragona, E, Wiesik-Szewczyk, E, Del Giudice, E, Sfikakis, Pp, Govoni, M, Emmi, G, Maggio, Mc, Giacomelli, R, Ciccia, F, Conti, Giorgio, Ait-Idir, D, Lomater, C, Sabato, V, Piga, M, Sahin, A, Opris-Belinski, D, Ionescu, R, Bartoloni, E, Franceschini, F, Parronchi, P, de Paulis, A, Espinosa, G, Maier, A, Sebastiani, Gd, Insalaco, A, Shahram, F, Sfriso, P, Minoia, F, Alessio, M, Makowska, J, Hatemi, G, Akkoç, N, Li Gobbi, F, Gidaro, A, Olivieri, An, Al-Mayouf, Sm, Erten, S, Gentileschi, S, Vasi, I, Tarsia, M, Mahmoud, Aaa, Frediani, B, Fares Alzahrani, M, Laymouna, Ah, Ricci, F, Cardinale, F, Jahnz-Rózyk, K, Tosi, Gm, Crisafulli, F, Balistreri, A, Dagostin, Ma, Ghanema, M, Gaggiano, C, Sota, J, Di Cola, I, Fabiani, C, Giardini, Ham, Renieri, A, Fabbiani, A, Carrer, A, Bocchia, M, Caroni, F, Rigante, Donato, Cantarini, L, Conti G (ORCID:0000-0002-8566-9365), and Rigante D (ORCID:0000-0001-7032-7779)

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: The present 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, enhancing international collaboration and data sharing for research purposes. The registry is handy enough to be easily modified to meet future needs regarding VEXAS syndrome. Results: To date (April 2022), 105 Centers from 23 Countries in 4 continents have been involved; 287 users (106 Principal Investigators, 177 Site Investigators, 2 Lead Investigators, and 2 data managers) may already enter the registry for data collection and sharing. The registry includes 4950 fields organised 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. Conclusions: This international Registry for patients with VEXAS syndrome will allow the achievement of a comprehensive knowledge about this new disease in a relatively short time with the final goal to obtain real-world evidence data for daily clinical practice. This project can be found on https://clinicaltrials.gov NCT 05200715

Published
2022

20. Development and implementation of the AIDA International Registry for patients with Still’s disease

Author

Vitale, A, Della Casa, F, Lopalco, G, Pereira, Rm, Ruscitti, P, Giacomelli, R, Ragab, G, La Torre, F, Bartoloni, E, Del Giudice, E, Lomater, C, Emmi, G, Govoni, M, Maggio, Mc, Maier, A, Makowska, J, Ogunjimi, B, Sfikakis, Pp, Sfriso, P, Gaggiano, C, Iannone, F, Dagostin, Ma, Di Cola, I, Navarini, L, Ahmed Mahmoud, Aa, Cardinale, F, Riccucci, I, Paroli, Mp, Marucco, Em, Mattioli, I, Sota, J, Abbruzzese, A, Antonelli, Ipb, Cipriani, P, Tufan, A, Fabiani, C, Ramadan, Mm, Cattalini, M, Kardas, Rc, Sebastiani, Gd, Giardini, Ham, Hernández-Rodríguez, J, Mastrorilli, V, Więsik-Szewczyk, E, Frassi, M, Caggiano, V, Telesca, S, Giordano, Hf, Guadalupi, E, Balistreri, A, Rigante, Donato, Cantarini, L., Rigante D (ORCID:0000-0001-7032-7779), Vitale, A, Della Casa, F, Lopalco, G, Pereira, Rm, Ruscitti, P, Giacomelli, R, Ragab, G, La Torre, F, Bartoloni, E, Del Giudice, E, Lomater, C, Emmi, G, Govoni, M, Maggio, Mc, Maier, A, Makowska, J, Ogunjimi, B, Sfikakis, Pp, Sfriso, P, Gaggiano, C, Iannone, F, Dagostin, Ma, Di Cola, I, Navarini, L, Ahmed Mahmoud, Aa, Cardinale, F, Riccucci, I, Paroli, Mp, Marucco, Em, Mattioli, I, Sota, J, Abbruzzese, A, Antonelli, Ipb, Cipriani, P, Tufan, A, Fabiani, C, Ramadan, Mm, Cattalini, M, Kardas, Rc, Sebastiani, Gd, Giardini, Ham, Hernández-Rodríguez, J, Mastrorilli, V, Więsik-Szewczyk, E, Frassi, M, Caggiano, V, Telesca, S, Giordano, Hf, Guadalupi, E, Balistreri, A, Rigante, Donato, Cantarini, L., and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

Objective: Aim of this paper is to present the design, construction, and modalities of dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for patients with systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still’s disease (AOSD), which are the pediatric and adult forms of the same autoinflammatory disorder. Methods: This Registry is a clinical, physician-driven, population- and electronic-based instrument implemented for the retrospective and prospective collection of real-world data. The collection of data is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain evidence drawn from routine patients’ management. The collection of standardized data is thought to bring knowledge about real-life clinical research and potentially communicate with other existing and future Registries dedicated to Still’s disease. Moreover, it has been conceived to be flexible enough to easily change according to future scientific acquisitions. Results: Starting from June 30th to February 7th, 2022, 110 Centers from 23 Countries in 4 continents have been involved. Fifty-four of these have already obtained the approval from their local Ethics Committees. Currently, the platform counts 290 users (111 Principal Investigators, 175 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry collects baseline and follow-up data using 4449 fields organized into 14 instruments, including patient’s demographics, history, clinical manifestations and symptoms, trigger/risk factors, therapies and healthcare access. Conclusions: This international Registry for patients with Still’s disease will allow a robust clinical research through collection of standardized data, international consultation, dissemination of knowledge, and implementation of observational studies based on wide cohorts of patients followed-up for very long periods. Solid evidence drawn from “real-life” data represents the ultimate goal of t

Published
2022

21. POS0270 DEVELOPMENT OF AORTIC ANEURYSM/DILATATION IN A PROSPECTIVE COHORT OF PATIENTS WITH BIOPSY-PROVEN GIANT-CELL ARTERITIS: EARLY IDENTIFICATION OF PATIENTS AT RISK.

Author

Marco Hernandez, J., primary, García-Martínez, A., additional, Prieto-González, S., additional, Suso, A., additional, Espígol-Frigolé, G., additional, Arguis, P., additional, Gilabert, R., additional, Alba, M., additional, Hernández-Rodríguez, J., additional, and Cid, M. C., additional

Published
2022
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22. POS0251 TRANSCRIPTOMIC CHANGES INDUCED BY MAVRILIMUMAB VERSUS TOCILIZUMAB IN EX-VIVO CULTURED ARTERIES FROM PATIENTS WITH GIANT-CELL ARTERITIS

Author

Corbera-Bellalta, M., primary, Kamberovic, F., additional, Araujo, F., additional, Alba-Rovira, R., additional, Espigol-Frigole, G., additional, Alba, M., additional, Prieto-González, S., additional, Hernández-Rodríguez, J., additional, Pérez-Galán, P., additional, Bondensgaard, K., additional, Paolini, J. F., additional, and Cid, M. C., additional

Published
2022
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24. Development and Implementation of the AIDA International Registry for Patients With Still's Disease

Author

Vitale, A. Della Casa, F. Lopalco, G. Pereira, R.M. Ruscitti, P. Giacomelli, R. Ragab, G. La Torre, F. Bartoloni, E. Del Giudice, E. Lomater, C. Emmi, G. Govoni, M. Maggio, M.C. Maier, A. Makowska, J. Ogunjimi, B. Sfikakis, P.P. Sfriso, P. Gaggiano, C. Iannone, F. Dagostin, M.A. Di Cola, I. Navarini, L. Ahmed Mahmoud, A.A. Cardinale, F. Riccucci, I. Paroli, M.P. Marucco, E.M. Mattioli, I. Sota, J. Abbruzzese, A. Antonelli, I.P.B. Cipriani, P. Tufan, A. Fabiani, C. Ramadan, M.M. Cattalini, M. Kardas, R.C. Sebastiani, G.D. Giardini, H.A.M. Hernández-Rodríguez, J. Mastrorilli, V. Więsik-Szewczyk, E. Frassi, M. Caggiano, V. Telesca, S. Giordano, H.F. Guadalupi, E. Giani, T. Renieri, A. Colella, S. Cataldi, G. Gentile, M. Fabbiani, A. Al-Maghlouth, I.A. Frediani, B. Balistreri, A. Rigante, D. Cantarini, L. The Autoinflammatory Diseases Alliance (AIDA) Network

Abstract

Objective: Aim of this paper is to present the design, construction, and modalities of dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for patients with systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD), which are the pediatric and adult forms of the same autoinflammatory disorder. Methods: This Registry is a clinical, physician-driven, population- and electronic-based instrument implemented for the retrospective and prospective collection of real-world data. The collection of data is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain evidence drawn from routine patients' management. The collection of standardized data is thought to bring knowledge about real-life clinical research and potentially communicate with other existing and future Registries dedicated to Still's disease. Moreover, it has been conceived to be flexible enough to easily change according to future scientific acquisitions. Results: Starting from June 30th to February 7th, 2022, 110 Centers from 23 Countries in 4 continents have been involved. Fifty-four of these have already obtained the approval from their local Ethics Committees. Currently, the platform counts 290 users (111 Principal Investigators, 175 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry collects baseline and follow-up data using 4449 fields organized into 14 instruments, including patient's demographics, history, clinical manifestations and symptoms, trigger/risk factors, therapies and healthcare access. Conclusions: This international Registry for patients with Still's disease will allow a robust clinical research through collection of standardized data, international consultation, dissemination of knowledge, and implementation of observational studies based on wide cohorts of patients followed-up for very long periods. Solid evidence drawn from “real-life” data represents the ultimate goal of this Registry, which has been implemented to significantly improve the overall management of patients with Still's disease. NCT 05200715 available at https://clinicaltrials.gov/. Copyright © 2022 Vitale, Della Casa, Lopalco, Pereira, Ruscitti, Giacomelli, Ragab, La Torre, Bartoloni, Del Giudice, Lomater, Emmi, Govoni, Maggio, Maier, Makowska, Ogunjimi, Sfikakis, Sfriso, Gaggiano, Iannone, Dagostin, Di Cola, Navarini, Ahmed Mahmoud, Cardinale, Riccucci, Paroli, Marucco, Mattioli, Sota, Abbruzzese, Antonelli, Cipriani, Tufan, Fabiani, Ramadan, Cattalini, Kardas, Sebastiani, Giardini, Hernández-Rodríguez, Mastrorilli, Więsik-Szewczyk, Frassi, Caggiano, Telesca, Giordano, Guadalupi, Giani, Renieri, Colella, Cataldi, Gentile, Fabbiani, Al-Maghlouth, Frediani, Balistreri, Rigante and Cantarini.

Published
2022

26. Attendance at an Emergency Dermatology consultation during 1 year of the COVID-19 pandemic towards new sensitivities

Author

Ortiz-Álvarez, J., Durán-Romero, A. J., Hernández-Rodríguez, J. C., Sendín-Martín, M., Conejo-Mir Sánchez, Julián, Pereyra-Rodríguez, José-Juan, and Universidad de Sevilla. Departamento de Medicina

Abstract

The consequences of the COVID-19 pandemic forced dramatic changes in health systems around the world, including the cancellation of in-person consultations, with emergency services (ES) being the only option for face-to-face (F2F) consultations, including for dermatological conditions.1 Our tertiary hospital in Seville, Spain, has an Emergency Dermatology (ED) service, which provides treatment for patients referred from the ES with dermatological issues. We performed a study to analyse changes in attendance to the ED service during the first year of the COVID-19 pandemic. (extract)

Published
2021

30. Attendance at an Emergency Dermatology consultation during 1 year of the COVID-19 pandemic towards new sensitivities

Author

Universidad de Sevilla. Departamento de Medicina, Ortiz-Álvarez, J., Durán-Romero, A. J., Hernández-Rodríguez, J. C., Sendín-Martín, M., Conejo-Mir Sánchez, Julián, Pereyra-Rodríguez, José-Juan, Universidad de Sevilla. Departamento de Medicina, Ortiz-Álvarez, J., Durán-Romero, A. J., Hernández-Rodríguez, J. C., Sendín-Martín, M., Conejo-Mir Sánchez, Julián, and Pereyra-Rodríguez, José-Juan

Abstract

The consequences of the COVID-19 pandemic forced dramatic changes in health systems around the world, including the cancellation of in-person consultations, with emergency services (ES) being the only option for face-to-face (F2F) consultations, including for dermatological conditions.1 Our tertiary hospital in Seville, Spain, has an Emergency Dermatology (ED) service, which provides treatment for patients referred from the ES with dermatological issues. We performed a study to analyse changes in attendance to the ED service during the first year of the COVID-19 pandemic. (extract)

Published
2021

31. Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry

Author

Sota, J, Rigante, D, Cimaz, R, Cattalini, M, Frassi, M, Manna, R, Sicignano, Ll, Verrecchia, E, Aragona, E, Maggio, Mc, Lopalco, G, Emmi, G, Parronchi, P, Cauli, A, Wiesik-Szewczyk, E, Hernández-Rodríguez, J, Gaggiano, C, Tarsia, M, Mourabi, M, Ragab, G, Vitale, A, Fabiani, C, Frediani, B, Lamacchia, V, Renieri, A, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Manna R (ORCID:0000-0003-1560-3907), Sicignano LL, Verrecchia E, Sota, J, Rigante, D, Cimaz, R, Cattalini, M, Frassi, M, Manna, R, Sicignano, Ll, Verrecchia, E, Aragona, E, Maggio, Mc, Lopalco, G, Emmi, G, Parronchi, P, Cauli, A, Wiesik-Szewczyk, E, Hernández-Rodríguez, J, Gaggiano, C, Tarsia, M, Mourabi, M, Ragab, G, Vitale, A, Fabiani, C, Frediani, B, Lamacchia, V, Renieri, A, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Manna R (ORCID:0000-0003-1560-3907), Sicignano LL, and Verrecchia E

Abstract

Objectives: To investigate survival of interleukin (IL)-1 inhibitors in monogenic autoinflammatory disorders (mAID) through drug retention rate (DRR) and identify potential predictive factors of drug survival from a real-life perspective. Patients and methods: Multicentre retrospective study analyzing patients affected by the most common mAID treated with anakinra or canakinumab. Survival curves were analyzed with the Kaplan-Meier method. Statistical analysis included a Cox-proportional hazard model to detect factors responsible for drug discontinuation. Results: Seventy-eight patients for a total of 102 treatment regimens were enrolled. The mean treatment duration was 29.59 months. The estimated DRR of IL-1 inhibitors at 12, 24, and 48 months of follow-up was 75.8%, 69.7% and 51.1%, respectively. Patients experiencing an adverse event had a significantly lower DRR (p = 0.019). In contrast, no significant differences were observed between biologic-naïve patients and those previously treated with biologic drugs (p = 0.985) Patients carrying high-penetrance mutations exhibited a significantly higher DRR compared with those with low-penetrance variants (p = 0.015). Adverse events were the only variable associated with a higher hazard of treatment withdrawal (HR 2.573 [CI: 1.223-5.411], p = 0.013) on regression analysis. A significant glucorticoid-sparing effect was observed (p < 0.0001). Conclusions: IL-1 inhibitors display an excellent long-term effectiveness in terms of DRR, and their survival is not influenced by the biologic line of treatment. They display a favorable safety profile, that deserves however a close monitoring given its impact on treatment continuation. Special attention should be paid to molecular diagnosis and mutation penetrance, as patients carrying low-penetrance variants are more likely to interrupt treatment.

Published
2021

32. Influence of the IL17A locus in giant cell arteritis susceptibility

Author

Márquez, A, Hernández-Rodríguez, J, Cid, M C, Solans, R, Castañeda, S, Fernández-Contreras, M E, Ramentol, M, Morado, I C, Narváez, J, Gómez-Vaquero, C, Martínez-Taboada, V M, Ortego-Centeno, N, Sopeña, B, Monfort, J, García-Villanueva, M J, Caminal-Montero, L, de Miguel, E, Blanco, R, Palm, O, Molberg, O, Latus, J, Braun, N, Moosig, F, Witte, T, Beretta, L, Santaniello, A, Pazzola, G, Boiardi, L, Salvarani, C, González-Gay, M A, and Martín, J

Published
2014
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33. 135 - Vasculitis

Author

Cid Xutglà, M.ªC., Solans Laqué, R., Hernández rodríguez, J., Cervera Segura, R., Selva O’Callaghan, A., Pons-Estel, G.J., and Pons-Estel, B.A.

Published
2020
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35. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

Author

Serrano, A, Márquez, A, Mackie, S L, Carmona, F D, Solans, R, Miranda-Filloy, J A, Hernández-Rodríguez, J, Cid, M C, Castañeda, S, Morado, IC, Narváez, J, Blanco, R, Sopeña, B, García-Villanueva, M J, Monfort, J, Ortego-Centeno, N, Unzurrunzaga, A, Marí-Alfonso, B, Sánchez-Martín, J, de Miguel, E, Magro, C, Raya, E, Braun, N, Latus, J, Molberg, O, Lie, B A, Moosig, F, Witte, T, Morgan, A W, González-Gay, M A, and Martín, J

Published
2013
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43. A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of Adjuvant Methotrexate Treatment for Giant Cell Arteritis

Author

Hoffman, Gary S., Cid, Maria C., Hellmann, David B., Guillevin, Loic, Stone, John H., Schousboe, John, Cohen, Pascal, Calabrese, Leonard H., Dickler, Howard, Merkel, Peter A., Fortin, Paul, Flynn, John A., Locker, Geri A., Easley, Kirk A., Schned, Eric, Hunder, Gene G., Sneller, Michael C., Tuggle, Carol, Swanson, Howard, Hernández-Rodríguez, J., Lopez-Soto, Alfons, Bork, Debora, Hoffman, Diane B., Kalunian, Kenneth, Klashman, David, Wilke, William S., Scheetz, Raymond J., Mandell, Brian F., Fessler, Barri J., Kosmorsky, Gregory, Prayson, Richard, Luqmani, Raashid A., Nuki, George, McRorie, Euan, Sherrer, Yvonne, Baca, Shawn, Walsh, Bridgit, Ferland, Diane, Soubrier, Martin, Choi, Hyon K., Gross, Wolfgang, Segal, Allen M., Ludivico, Charles, and Puechal, Xavier

Published
2002
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46. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Author

Carmona, DF, Vaglio, A, Mackie, SL, Hernández-Rodríguez, J, Monach, PA, Castaneda, S, Solans, R, Morado, IC, Narvaez, J, Ramentol-Sintas, M, Pease, CT, Dasgupta, B, Watts, R, Khalidi, N, Langford, CA, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, MA, Witte, T, Neumann, T, Holle, A, Schonau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, O, Diamantopoulos, AP, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, CT, Molloy, ES, O'Neill, L, Blockmans, D, Lie, BA, Mclaren, P, Vyse, TJ, Wijmenga, C, Allanore, Y, Koeleman, BPC, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, Barrett, JH, Cid, MC, Salvarini, C, Merkel, PA, Morgan, AW, Gonzalez-Gay, MA, and Martin, J

Subjects
Genetics, Journal Article, Genetics(clinical)
Abstract

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10−54, per-allele OR = 1.79; and rs9275592, p = 1.14 × 10−40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10−10, OR = 1.28; and rs128738, p = 4.60 × 10−9, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis.

Published
2017

47. Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene

Author

Ruiz-Ortiz E, Iglesias-Jimenez E, Soriano A, Buján-Rivas S, Español-Rego M, Castellanos-Moreira R, Tomé A, Yagüe J, Anton-Lopez J, and Hernández-Rodríguez J

Subjects
adult onset, low-penetrance variants, R92Q, pediatric onset, autoinflammatory diseases, tumor necrosis factor receptor-associated periodic syndrome
Abstract

BACKGROUND: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related disease in patients with pediatric and adult onset have been performed to date. OBJECTIVE: To analyze clinical features and disease outcomes in patients diagnosed with TRAPS associated with R92Q variant and to investigate differences between patients with pediatric and adult disease onset. METHODS: A retrospective review of patients with R92Q-related disease from four reference centers for autoinflammatory diseases was performed. Clinical and laboratory features, family history of autoinflammatory diseases, treatments received, and outcomes during follow-up were recorded and separately analyzed in pediatric and adult patients. Our results were included in the analysis with other reported pediatric and adult R92Q-related disease series. RESULTS: Our series encompassed 18 patients (9 females and 9 males) with R92Q variant. In 61% of patients, disease onset occurred during infancy and in 39%, during adulthood, with a median diagnostic delay of 5 years and a follow-up of 5.4 years. A positive family history of autoinflammatory disease was detected in 28% of patients. All patients presented with febrile recurrent episodes. Other common symptoms included arthralgia/arthritis (61%), myalgia (39%), asthenia/fatigue (44%), abdominal pain (39%), headache (33%), odynophagia (33%), skin rash (28%), and chest pain (22%). During attacks, 80% of patients increased acute phase reactants levels. No patient had developed amyloidosis during the study period. At the end of follow-up, 28% of patients were asymptomatic and treatment free, 50% were receiving non-steroidal anti-inflammatory drugs or glucocorticoids on demand, and 22% were being treated with biologic agents. When differences between pediatric and adult patients were globally analyzed, adults tended to have longer attacks duration and presented more frequently with chest pain and headache, while abdominal pain, vomiting, cervical adenitis, and pharyngitis predominated in pediatric patients. No differences in outcomes and treatment requirements were observed in both age groups. CONCLUSION: This study has contributed to characterize R92Q-related disease by identifying trends in disease phenotypes depending on the age at disease onset.

Published
2017

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