Understanding Autoinflammatory Diseases
This observational study aims to better understand autoinflammatory diseases like NOMID, DIRA, NLRC4-MAS, SAVI, and CANDLE. These conditions cause ongoing inflammation and symptoms such as fevers and rashes. Researchers want to learn about the clinical features, immune system changes, genetic causes, and metabolic characteristics of these diseases. The goal is to use this information to develop new treatments and improve how these conditions are managed. The study is looking for up to 3200 participants, including those with known autoinflammatory diseases and those with undifferentiated forms. The study will track participants over several years to see how the diseases progress.
- Study design
- This is an observational study, meaning researchers will gather information without providing specific interventions. It plans to enroll up to 3200 participants.
- What's involved
- Participants will be evaluated for their clinical, immunological, genetic, and metabolic/endocrinological characteristics. Most participants will be followed for up to 15 years.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed at 1-2 years, 3-5 years, and 10 years to study the disease's characteristics and long-term outcomes.
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NCT02974595
Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)
Recruiting
Not specifiedUp to 99ObservationalNational Institute of Allergy and Infectious Diseases (NIAID)Government-funded
~3,200 participants
Updated 2026-04-06 on ClinicalTrials.gov
At a glance
Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To study the pathogenesis of patients affected with auto-inflammatory diseases, including their clinical, immunological, genetic and metabolic/endocrinological characteristics.
Measured over 1-2 years, 3-5 years, 10 years
Conditions
Where it's being run
1 sites across 1 statesMaryland1
Study leadership
- Raphaela T Goldbach-Mansky, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
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Do you actually qualify for this trial?
Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.
Eligibility criteria
Inclusion
Has a known disease-causing genetic mutation associated with NOMID/CAPS, DIRA, CANDLE, SAVI, or NLRC4-MAS.
Has clinical signs or symptoms not explained by any other disorder (eg, infections, malignancies) and are consistent with a possible IL-1 mediated autoinflammatory disease. Participants must meet both of the following criteria:
Clinical characteristics strongly consistent with an IL-1 mediated autoinflammatory disease per the following criteria and at the discretion of the principal investigator (PI). Individuals must have a past or present history of one of the following to be considered for study enrollment:
Recurrent fever that has gone undiagnosed after reasonable attempts, and that is consistent with the conditions under study in this protocol
Neutrophilic urticaria, pustular dermatitis, erysipelas-like erythema, or urticarial rash
Epiphyseal and/or patella enlargement, periostitis, myalgias, arthralgias, arthritis, or recurrent multifocal aseptic osteomyelitis
Sensorineural hearing loss
Chronic aseptic meningitis or CNS vasculitis
Conjunctivitis, episcleritis, uveitis, papilledema, pleuritis, pericarditis, aseptic peritonitis, early onset enterocolitis, hepatosplenomegaly, or lymphadenopathies
Laboratory characteristics strongly consistent with an IL-1mediated autoinflammatory disease per the following criteria. Individuals must havepast or present history of evidence of systemic inflammation (eg, elevation of C-reactive protein \[CRP\] and/or erythrocyte sedimentation rate \[ESR\], anemia, thrombocytosis).
Has clinical signs or symptoms not explained by any other disorder (eg, infections, malignancies) and are consistent with a possible IFN-mediated, autoinflammatory disease.1,36 Participants must meet both of the following criteria:
Clinical characteristics strongly consistent with an IFN-mediated autoinflammatory disease per the following criteria and at the discretion of the PI. Individuals must have a past or present history of one of the following to be considered for study enrollment:
Recurrent fevers that has gone undiagnosed after reasonable attempts, and that is consistent with the conditions under study in this protocol
Panniculitis, ischemic ulcerative skin lesions, chilblain lesions, or livedo reticularis
Lipodystrophy
Myositis, arthralgias, arthritis, or joint contractures
Basal ganglia calcifications or white matter CNS disease
Interstitial lung disease, lung fibrosis, or pulmonary hypertension
Conjunctivitis, episcleritis, cortical blindness, glaucoma, papilledema, or hepatosplenomegaly
Laboratory characteristics strongly consistent with an IFN-mediated autoinflammatory disease per the following criteria. Individuals must have past or present history one or more of the following to be considered for study enrollment:
Evidence of systemic inflammation (eg, ESR or CRP)
Cytopenias (eg. leukopenia, anemia, or thrombocytopenia)
Dyslipidemia or insulin resistance
Abnormal liver function test, creatinine kinase (CK), or LDH
Has clinical signs or symptoms consistent with an undifferentiated autoinflammatory disease (including but not limited to dysregulation in other proinflammatory cytokines such as IL-17, TNF, IL-18, and others). Participants must meet one of the following criteria:
Clinical characteristics strongly consistent with an undifferentiated autoinflammatory disease. Individuals must have a past or present history of one of the clinical and one of the laboratory characteristics mentioned above to be considered for study enrollment.
Individuals with defined organ inflammation associated with past or current evidence of systemic inflammation. 6. Alternatively to #5, had been enrolled in the past as an affected participant on NIAMS study 03-AR-0173 and or had samples collected on 03-AR-0173.
What this trial measures
- To study the pathogenesis of patients affected with auto-inflammatory diseases, including their clinical, immunological, genetic and metabolic/endocrinological characteristics.1-2 years, 3-5 years, 10 years
To study the pathogenesis of patients affected with autoinflammatory diseases, including their clinical, immunological, genetic and metabolic/endocrinological characteristics.