ClinicalTrials.gov record NCT05200715
AutoInflammatory Disease Alliance Registry (AIDA)
Development of an International Multicenter Registry of Patients With Monogenic and Polygenic Autoinflammatory Diseases Aimed at Clinical and Therapeutical Data Collection and Analysis
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is an observational registry that collects both past and ongoing medical data on people with monogenic and polygenic autoinflammatory diseases. Data (demographic, clinical, genetic, treatment, laboratory, imaging, and socioeconomic) are entered via a secure web platform and kept pseudonymized. The project follows patients over time (planned at least 10 years) to describe disease courses and support future research.
What it is studying. The registry aims to learn how clinical features, genetics, treatments, age at onset, and other factors relate to disease presentation and long-term outcomes across many autoinflammatory conditions; it will also collect information on quality of life, pregnancy and fertility, and socioeconomic impact.
What the researchers hope to learn. To build a large, shared database to (1) identify links between symptoms, demographics, and genetics; (2) compare pediatric-onset and adult-onset presentations; (3) study how different treatments relate to clinical and laboratory measures; (4) describe long-term course, complications, and quality-of-life impact; (5) assess fertility and pregnancy courses; (6) measure socioeconomic effects; and (7) enable future multicenter research.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Other
- No intervention is foreseen by the protocol.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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;
- to be diagnosed with spondyloarthritis according to ASAS and/or New York criteria;
- to be diagnosed with Castleman disease;
Exclusion criteria
- informed consent/assent not provided by the patient and/or his/her legal representative.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
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, 11 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
- spondyloarthritis
- Castleman disease
The registry will pursue the following aims within the first 36 months from the start of the enrollment:
- to identify any association between clinical manifestations and gender, disease duration, body mass index and tabagism;
- to detect differences in the clinical phenotype between pediatric-onset and adult-onset patients;
- 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:
- to overcome fragmentation in the clinical experience on these rare conditions by sharing the knowledge at the international level;
- 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;
- to identify the long-term clinical course of patients diagnosed with monogenic or polygenic AID;
- to promote awareness among physicians and enhance early recognition of these diseases;
- to describe the impact of AID on quality of life;
- to identify any impact of monogenic and polygenic AID on fertility;
- to study the course of AID during pregnancy;
- to assess the socioeconomic impact of AID;
- 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).
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
No study intervention is foreseen. Participation involves allowing clinicians to enter past and future medical data into the secure REDCap registry and being observed for at least 10 years. Data are collected retrospectively and prospectively from routine clinic visits (instruments are usually filled during regular visits, often every 3–6 months) and include demographic, genetic, clinical, treatment, laboratory, imaging, clinimetric and socio-economic information. Personal identifiers are stored separately and medical data are pseudonymized for research use.
How the study is structured. An observational, international patient registry. Data are entered into a secure REDCap database both retrospectively and prospectively, typically using information from routine clinic visits (often every 3–6 months). No experimental treatments are given by the study; participants are followed and their medical data are recorded and analyzed over time (target duration 10 years).
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Algeria, Australia, Belgium, Brazil, China, Colombia, Egypt, Germany, Greece, India, Iran, Italy, Libya, Martinique, Mexico, Poland, Romania, Saudi Arabia, Spain, Tunisia, Turkey, Ukraine. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on adult-onset Still's disease
This trial is also listed on this site under Behçet's disease, Castleman disease, familial Mediterranean fever and VEXAS syndrome.
Important dates
- Study start
- Aug 6, 2020
- Primary completion
- Aug 6, 2026 (estimated)
- Study completion
- Aug 6, 2030 (estimated)
- Target enrollment
- 3500 participants (estimated)
- Last updated on registry
- Jul 10, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- University of Siena
- Principal investigator
- Luca Cantarini, MD, PhD, Professor of Rheumatology
University of Siena
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Luca Cantarini, MD,PhD 📞 +393479385457 ✉ cantarini@unisi.it
Participating sites (112)
- University Algiers 1Recruiting
Algiers · Algeria
- Ghalia Khellaf
- Université M'Hamed Bougara de BoumerdasRecruiting
Boumerdas · Algeria
- Djouher Ait-Idir
- Flinders UniversityRecruiting
Adelaide · Australia
- Syed Ali
- University of AdelaideRecruiting
Adelaide · Australia
- Pravin Hissaria
- Antwerp University HospitalRecruiting
Antwerp · Belgium
- Benson Ogunjimi
- Hospital das Clinicas da Faculdade de Medicina HCFMUSPRecruiting
São Paulo · Brazil
- Henrique A Mayrink Giardini
- Peking University People's HospitalRecruiting
Beijing · China
- Haihong Yao
- The First Affiliated Hospital of Chongqing Medical UniversityRecruiting
Chongqing · China
- Peizeng Yang
- Universidad del Rosario - Escuela de Medicina Y Ciencias de La SaludRecruiting
Bogotá · Colombia
- Alejandra De-la-Torre
- Mansoura University, Faculty of MedicineRecruiting
Al Mansurah · Egypt
- Samar Tharwat
Terms used on this page · explanations by MedicalUpdates.ai
- registry
- An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- assent
- A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
- legal representative
- A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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