AutoInflammatory Disease Alliance Registry (AIDA)

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	No
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Observational [Patient Registry]
Eligible Ages	N/A and Over
Gender	All

More Inclusion & Exclusion Criteria

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.

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT05200715
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	University of Siena
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	N/A
Principal Investigator Affiliation	N/A
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	Algeria, Belgium, Brazil, Egypt, Germany, Ghana, Greece, Iran, Islamic Republic of, Italy, Lebanon, Morocco, Poland, Portugal, Romania, Saudi Arabia, Spain, Taiwan, Turkey, United States
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	Hereditary Autoinflammatory Diseases, Schnitzler Syndrome, Behcet Syndrome, PFAPA Syndrome, Still Disease, Autoinflammatory Syndrome, Unspecified, Uveitis, Scleritis, Vexas Syndrome
Study Website:	View Trial Website

Additional Details

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).

Arms & Interventions

Arms

: Patients affected by autoinflammatory diseases

Interventions

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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

National Human Genome Research Institute, Bethesda, Maryland

Status

Not yet recruiting

Address

National Human Genome Research Institute

Bethesda, Maryland, 20892-2152

Site Contact

Dan Kastner

Clinical Trial Finder