AutoInflammatory Disease Alliance Registry (AIDA)

Uveitis Clinical Trial

— AIDA  

Official title:

Development of an International Multicenter Registry of Patients With Monogenic and Polygenic Autoinflammatory Diseases Aimed at Clinical and Therapeutical Data Collection and Analysis

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05200715
• Other study ID #: AIDA V.04 19.05.2021
• Status: Recruiting
• Start date: August 6, 2020
• Est. completion date: August 6, 2030

Study information

• Verified date: February 2023
• Source: University of Siena
• Contact: Luca Cantarini, MD,PhD
• Phone: +393479385457
• Email: cantarini[@]unisi.it
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

Autoinflammatory diseases (AID) are clinical entities characterized by recurrent inflammatory attacks in absence of infection, neoplasm or deregulation of the adaptive immune system. Among them, hereditary periodic syndromes, also known as monogenic AID, represent the prototype of this disease group, caused by mutations in genes involved in the regulation of innate immunity, inflammation and cell death. Based on recent experimental acquisitions in the field of monogenic AID, several immunologic disorders have been reclassified as polygenic/multifactorial AID, sharing pathogenetic and clinical features with hereditary periodic fevers. This has paved the way to new treatment targets for patients suffering from rare diseases of unknown origin, including Behçet's disease, Still disease, Schnitzler's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), non-infectious uveitis and scleritis. Gathering information on such rare conditions is made difficult by the small number of patients, along with the difficulty of obtaining an accurate diagnosis in non-specialized clinical settings.

In this context, the AIDA project promotes international collaboration among clinical centres to develop a permanent registry aimed at collecting demographic, genetic, clinical and therapeutic data of patients affected by monogenic and polygenic AID, in order to expand the current knowledge of these rare conditions.

Description:

The AIDA registry service is based on REDCap (Research Electronic Data Capture, project-redcap.org), a secure web application for building and managing online surveys and databases, designed to support data capture for research studies. The platform is directly accessible through the AIDA website, after inserting a personal username and password. Currently, 9 registries are available, each one dedicated to the collection of data about:

• monogenic AID

• PFAPA syndrome

• undifferentiated systemic AID (USAID)

• Behçet's disease

• Schnitzler's disease

• VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome

• Still disease

• noninfectious uveitis

• noninfectious scleritis

The registry will pursue the following aims within the first 36 months from the start of the enrollment:

1. to identify any association between clinical manifestations and gender, disease duration, body mass index and tabagism;

2. to detect differences in the clinical phenotype between pediatric-onset and adult-onset patients;

3. to identify the impact of different treatment approaches on clinical and laboratory disease manifestations.

Additional aims of the AIDA project, to be reached over the next 10 years, are the following:

1. to overcome fragmentation in the clinical experience on these rare conditions by sharing the knowledge at the international level;

2. to improve knowledge about the clinical presentation, genotype-phenotype correlations, response to treatment, long-term complications and social impact when monogenic and polygenic AID manifest during either childhood or adulthood;

3. to identify the long-term clinical course of patients diagnosed with monogenic or polygenic AID;

4. to promote awareness among physicians and enhance early recognition of these diseases;

5. to describe the impact of AID on quality of life;

6. to identify any impact of monogenic and polygenic AID on fertility;

7. to study the course of AID during pregnancy;

8. to assess the socioeconomic impact of AID;

9. to promote future multicentric studies.

Data collection is both retrospective and prospective. It includes demographic, clinical, diagnostic, genetic, clinimetric, laboratory, radiologic, therapeutic and socio-economic data. Instruments are designed to be filled out during routine clinical visits, usually scheduled every 3-6 months. Separation of personally identifiable information and medical data by using only pseudonyms for storing medical data ensures compliance with data protection regulations. The description of symptoms, diseases, procedures and injuries is based on the International Statistical Classification of Diseases and Related Health Problems (ICD)-10 coding system. Data management is both central and decentral. Data are extracted and statistically analyzed on a regular basis according to individual study protocols. A policy for authorship and dissemination of research findings is in place among the AIDA partners contributing to the registry.

The AIDA registry will support data collection for the conduction of clinical trials, observational studies, comparative effectiveness research, and other research on patients with monogenic and polygenic AID.

Several healthcare providers contributing to the AIDA Network are members of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 3500
• Est. completion date: August 6, 2030
• Est. primary completion date: August 6, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• to be diagnosed with a monogenic AID according to the clinical phenotype and the detection of a confirmative genotype;

• to be diagnosed with clinical familial Mediterranean fever or Behçet's disease or Still disease or PFAPA syndrome or Schnitzler's disease or CRMO according to the corresponding clinical diagnostic and/or classification criteria;

• to be diagnosed with undifferentiated systemic AID;

• to be diagnosed with non-infectious uveitis according to the standardization for uveitis nomenclature (SUN) criteria;

• to be diagnosed with anterior or posterior non-infectious scleritis.

Exclusion Criteria:

• informed consent/assent not provided by the patient and/or his/her legal representative.

Related Conditions & MeSH terms

• Behcet Syndrome
• Familial Mediterranean Fever
• Hereditary Autoinflammatory Diseases
• PFAPA Syndrome
• Schnitzler Syndrome
• Scleritis
• Syndrome
• Uveitis

Intervention

Other:
• No intervention is foreseen by the protocol.
Patients will be observed for 10 years at least. Demographic, genetic, clinical, clinimetric, laboratory, radiologic and therapeutic data will be collected both retrospectively and prospectively during routine follow-up visits.

Locations

Country	Name	City	State
Algeria	Université M'Hamed Bougara de Boumerdas	Boumerdas
Belgium	Antwerp University Hospital	Antwerp
Belgium	UZ Leuven Gasthuisberg Campus	Leuven
Brazil	Hospital das Clinicas da Faculdade de Medicina HCFMUSP	São Paulo
Egypt	Cairo University	Cairo
Germany	Charité - Universitätsmedizin Berlin	Berlin
Germany	Universitätsklinikum Schleswig-Holstein	Lübeck
Ghana	Korle Bu Teaching Hospital	Accra
Greece	National and Kapodistrian University of Athens	Athens
Iran, Islamic Republic of	Shariati Hospital - Tehran University of Medical Sciences	Tehran
Italy	Ospedale San Donato	Arezzo
Italy	AOUC Policlinico di Bari	Bari
Italy	University-Hospital of Bari - UOC Medicina Interna	Bari
Italy	University-Hospital of Bari - UOC Pediatria	Bari
Italy	University-Hospital of Bari - UOC Reumatologia	Bari
Italy	IRCCS Istituto Ortopedico Rizzoli	Bologna
Italy	Central Hospital of Bolzano	Bolzano
Italy	ASST degli Spedali Civili	Brescia
Italy	ASST degli Spedali Civili - P.O. Ospedale dei Bambini	Brescia
Italy	Azienda Ospedaliera Universitaria di Cagliari	Cagliari
Italy	AOU Policlinico Vittorio Emanuele - Dip. Materno-Infantile	Catania
Italy	Azienda Ospedaliera per l'Emergenza Cannizzaro	Catania
Italy	Azienda Ospedaliera di Catanzaro Pugliese Ciaccio	Catanzaro
Italy	Ospedale SS Annunziata	Chieti
Italy	Arcispedale Sant'Anna	Ferrara
Italy	Azienda Ospedaliera Universitaria Careggi - SOD Medicina Interna Interdisciplinare	Firenze
Italy	Azienda Ospedaliero-Universitaria Careggi - SOD Immunologia e Terapie Cellulari	Firenze
Italy	Azienda Ospedaliero-Universitaria Meyer	Firenze
Italy	Azienza Ospedaliero-Universitaria Careggi - SOD Reumatologia	Firenze
Italy	Ospedale San Giovanni di Dio	Firenze
Italy	Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza	Foggia
Italy	IRCCS Ospedale Pediatrico Giannina Gaslini	Genova
Italy	ASL1 Avezzano, Sulmona, L'Aquila	L'Aquila
Italy	Università degli Studi di L'Aquila - UOC Medicina Interna e Nefrologia	L'Aquila
Italy	Sapienza University - Polo Pontino	Latina
Italy	Ospedale Galateo - San Cesario	Lecce
Italy	AOU Policlinico G. Martino	Messina
Italy	ASST Gaetano Pini/ CTO	Milan
Italy	Policlinico di Milano	Milan
Italy	ASST Fatebenefratelli Sacco - UO Medicina Generale	Milano
Italy	ASST Fatebenefratelli Sacco - UOC Reumatologia	Milano
Italy	IRCCS Ospedale San Raffaele	Milano
Italy	Ospedale Fatebenefratelli e Oftalmico	Milano
Italy	AOU Luigi Vanvitelli - UO Reumatologia	Napoli
Italy	AOU Luigi Vanvitelli - UOC Pediatria 2	Napoli
Italy	Policlinico Federico II	Napoli
Italy	Azienda Ospedaliera Universitaria di Padova	Padova
Italy	ARNAS Ospedale Civico di Cristina Benfratelli	Palermo
Italy	Azienda Ospedaliera Ospedali Riuniti Villa Sofia-Cervello	Palermo
Italy	Università degli Studi di Palermo	Palermo
Italy	AOU di Parma - Ospedale dei Bambini P. Barilla	Parma
Italy	Fondazione IRCCS Policlinico San Matteo - Dip. Medicina Diagnostica e Servizi: L.S.R. Area Biotecnologie	Pavia
Italy	Fondazione IRRCS San Matteo - SC Reumatologia	Pavia
Italy	Azienda Ospedaliera di Perugia	Perugia
Italy	Azienda USL di Piacenza	Piacenza
Italy	Azienda Ospedaliera Universitaria di Pisa	Pisa
Italy	Azienda Ospedaliera San Carlo	Potenza
Italy	Grande Ospedale Metropolitano - Azienda Ospedaliera Bianchi-Melacrino-Morelli	Reggio Calabria
Italy	Arcispedale Santa Maria Nuova	Reggio Emilia
Italy	AOU Policlinico Umberto I	Roma
Italy	Azienda Ospedaliera San Camillo Forlanini	Roma
Italy	IRCCS Fondazione PU Agostino Gemelli - UOC Medicina Interna Columbus	Roma
Italy	IRCCS Fondazione PU Agostino Gemelli - UOC Pediatria	Roma
Italy	Ospedale Pediatrico Bambino Gesù	Roma
Italy	Ospedale Universitario Campus Bio-Medico	Roma
Italy	Sapienza University - Polo Pontino - SCIAC	Roma
Italy	Azienda Ospedaliera Universitaria di Salerno	Salerno
Italy	Azienda Ospedaliero-Universitaria Senese	Siena	Tuscany
Italy	ATS Sardegna	Tempio Pausania
Italy	AO Ordine Mauriziano	Torino
Italy	Presidio Ospedaliero Molinette	Torino
Italy	Presidio Ospedaliero Santa Chiara	Trento
Italy	Azienda Ospedaliera Universitaria Integrata	Verona
Lebanon	American University of Beirut	Beirut
Morocco	Mohammed V University	Rabat
Poland	Medical University of Lodz	Lódz
Poland	Pomeranian Medical University	Szczecin
Poland	Central Clinical Hospital of the Ministry of National Defense - Military Institute of Medicine	Warsaw
Portugal	Centro Hospitalar e Universitário do Porto	Porto
Romania	Sf. Maria Hospital - University of Medicine and Pharmacy "Carol Davila"	Bucharest
Saudi Arabia	King Faisal Specialist Hospital and Research Center	Riyadh
Saudi Arabia	King Saud University	Riyadh
Spain	Hospital Clinic of Barcelona	Barcelona
Spain	Vall d'Hbron University Hospital	Barcelona
Spain	Hospital Ramón y Cajal	Madrid
Spain	Hospital Universitario Marqués de Valdecilla	Santander
Spain	Hospital Álvaro Cunquiero-Complejo Hospitalario Universitario de Vigo	Vigo
Taiwan	China Medical University	Taichung
Turkey	Çukurova University	Adana
Turkey	Ankara University	Ankara
Turkey	Ankara Yildirim Beyazit University	Ankara
Turkey	Gazi University	Ankara
Turkey	Antalya Education and Research Hospital	Antalya
Turkey	Erzurum Education and Research Hospital	Erzurum
Turkey	Eskisehir Osmangazi University	Eskisehir
Turkey	Cerrahpasa Medical School Istanbul University	Istanbul
Turkey	Dokuz Eylul University School of Medicine	Izmir
Turkey	Manisa Celal Bayar University	Manisa
Turkey	Sivas Cumhuriyet University	Sivas
United States	National Human Genome Research Institute	Bethesda	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
University of Siena

Countries where clinical trial is conducted

United States,  Algeria,  Belgium,  Brazil,  Egypt,  Germany,  Ghana,  Greece,  Iran, Islamic Republic of,  Italy,  Lebanon,  Morocco,  Poland,  Portugal,  Romania,  Saudi Arabia,  Spain,  Taiwan,  Turkey, 

References & Publications (6)

Gaggiano C, Rigante D, Hernandez-Rodriguez J, Vitale A, Tarsia M, Soriano A, Lopalco G, Iannone F, Abdel Jaber M, Giacomelli R, Wiesik-Szewczyk E, Cattalini M, Frassi M, Piga M, Ragab G, Sota J, Zunica F, Floris A, Sabato V, Hegazy MT, Araujo O, Pelegrin L, Fabbiani A, Renieri A, Grosso S, Fabiani C, Frediani B, Cantarini L. Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network. Ther Adv Musculoskelet Dis. 2021 Sep 9;13:1759720X211037178. doi: 10.1177/1759720X211037178. eCollection 2021. — View Citation

Gaggiano C, Vitale A, Obici L, Merlini G, Soriano A, Viapiana O, Cattalini M, Maggio MC, Lopalco G, Montin D, Jaber MA, Dagna L, Manna R, Insalaco A, Piga M, La Torre F, Berlengiero V, Gelardi V, Ciarcia L, Emmi G, Ruscitti P, Caso F, Cimaz R, Hernandez-Rodriguez J, Parronchi P, Sicignano LL, Verrecchia E, Iannone F, Sota J, Grosso S, Salvarani C, Frediani B, Giacomelli R, Mencarelli MA, Renieri A, Rigante D, Cantarini L. Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-alpha Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network. Mediators Inflamm. 2020 Aug 7;2020:8562485. doi: 10.1155/2020/8562485. eCollection 2020. — View Citation

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, Hernandez-Rodriguez J, Gaggiano C, Tarsia M, Mourabi M, Ragab G, Vitale A, Fabiani C, Frediani B, Lamacchia V, Renieri A, Cantarini L; Autoinflammatory Diseases Alliance (AIDA) and the Autoinflammatory Diseases Working Group of the Italian Society of Rheumatology (SIR). Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry. Rheumatology (Oxford). 2021 Dec 1;60(12):5705-5712. doi: 10.1093/rheumatology/keab419. — View Citation

Sota J, Rigante D, Lopalco G, Emmi G, Gentileschi S, Gaggiano C, Ciarcia L, Berlengiero V, Mourabi M, Ricco N, Barneschi S, Mattioli I, Tosi GM, Frediani B, Tarsia M, di Scala G, Vitale A, Iannone F, Fabiani C, Cantarini L. Clinical profile and evolution of patients with juvenile-onset Behcet's syndrome over a 25-year period: insights from the AIDA network. Intern Emerg Med. 2021 Nov;16(8):2163-2171. doi: 10.1007/s11739-021-02725-9. Epub 2021 Apr 9. — View Citation

Vitale A, Obici L, Cattalini M, Lopalco G, Merlini G, Ricco N, Soriano A, La Torre F, Verrecchia E, Insalaco A, Dagna L, Jaber MA, Montin D, Emmi G, Ciarcia L, Barneschi S, Parronchi P, Ruscitti P, Maggio MC, Viapiana O, Sota J, Gaggiano C, Giacomelli R, Sicignano LL, Manna R, Renieri A, Lo Rizzo C, Frediani B, Rigante D, Cantarini L. Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome-Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network. Front Med (Lausanne). 2021 Jul 8;8:668173. doi: 10.3389/fmed.2021.668173. eCollection 2021. — View Citation

Vitale A, Sota J, Obici L, Ricco N, Maggio MC, Cattalini M, Ruscitti P, Caso F, Manna R, Viapiana O, Caggiano V, Emmi G, Insalaco A, Montin D, Licciardi F, Soriano A, Dagna L, Salvarani C, Lamacchia V, Hernandez-Rodriguez J, Giacomelli R, Frediani B, Renieri A, Cantarini L. Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network. Mediators Inflamm. 2020 May 27;2020:1936960. doi: 10.1155/2020/1936960. eCollection 2020. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change of the number of enrolled subjects	This is an observational registry. The primary outcome is the increase of the number of subjects enrolled within each nosologic group.	0-36-60-120 months
Secondary	Change in the disease activity score	Change in the disease activity score specific for the nosologic entity (BDCAF score, Pouchot score, modified Pouchot score, JADAS27/JADAS27(CRP), DAS28) or according to composite indexes that will be defined in each study based on the registry.	0-36-60-120 months
Secondary	Change in the % of patients with new organ involvement		0-36-60-120 months
Secondary	Incidence of death or adverse events		0-36-60-120 months
Secondary	Change in the inflammatory markers values (ESR)	ESR measured in mm/h	0-36-60-120 months
Secondary	Change in the inflammatory markers values (CRP and SAA)	CRP and SAA measured in mg/dl	0-36-60-120
Secondary	Change in visual acuity expressed as Best Corrected Visual Acuity (BCVA)		0-36-60-120 months
Secondary	Change in the overall function score	Change in the overall function score according to HAQ (adults) or CHAQ (children)	0-36-60-120 months
Secondary	Change in the overall damage score	Change in the overall damage score specific for the nosologic entity (ADDI score, BODI score, JADI score)	0-36-60-120 months
Secondary	Change in articular pain measured as Visual Analogue Scale for articular Pain (VAS Pain)		0-36-60-120 months
Secondary	Changes in height and weight percentile values for age and sex		0-36-60-120 months
Secondary	Change in the % of patients experiencing fatigue		0-36-60-120 months
Secondary	Change in the % of patients with fertility reduction or pregnancy complications		0-36-60-120
Secondary	Change in the socioeconomic indicators	Number of days lost at work/school during the last 3 months, Number of visits/ phone calls to the general practitioner during the last 3 months, Number of accesses to the Emergency Room during the last 6 months, Days of hospitalization during the last 3 months, Overall number of days lost at work by relatives during the last 3 months	0-36-60-120 months

External Links

•   Website of the AIDA Network