Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)
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|ClinicalTrials.gov Identifier: NCT02974595|
Recruitment Status : Recruiting
First Posted : November 28, 2016
Last Update Posted : March 29, 2018
Some diseases cause chronic inflammation with intermittent flares in the body. These are called autoinflammatory diseases. They can cause fevers, rashes, ulcers, and other problems. Researchers want to learn more about the causes and effects of these diseases. They hope this will improve how the disease is managed in the future.
To understand the underlying immune dysregulation
To identify the genetic cause
To translate our findings into novel treatments that improve patients disease outcomes
Patients with known NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still's Disease, and with other yet undifferentiated autoinflammatory diseases.
Unaffected relatives of participants with a known or undifferentiated autoinflammatory disease
Healthy adult volunteers at least 18 years of age
Participants will be screened with blood sample and medical history. They may provide copies of their medical records.
Enrolled participants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests, and other evaluations depending on the extent of their autoinflammatory disease.
Participants may also expect the following assessments:
- Clinical tests that help assess organ damage and function such as hearing, vision, memory, and learning tests.
- Imaging studies to characterize organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, and bone scans.
- Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, blood samples for cytokine/biomarker assessment, and gene expression profiling.
- Questionnaires to assess disease activity and quality of life.
- If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected, a skin biopsy if skin inflammation is present, and/or gastrointestinal and pulmonary procedures if they are clinically indicated.
Participants may return for a single follow-up visit or for long-term follow-up visits depending on their disease and willingness to return. Long-term follow-up may occur for up to 15 years on this protocol.
|Condition or disease|
|NOMID CAPS DIRA NLRC4-MAS SAVI Other Undifferentiated Autoinflammatory Diseases CANDLE|
|Study Type :||Observational|
|Estimated Enrollment :||2200 participants|
|Official Title:||Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)|
|Study Start Date :||November 23, 2016|
|Estimated Primary Completion Date :||October 20, 2031|
|Estimated Study Completion Date :||October 20, 2032|
- To study the pathogenesis of patients affected with autoinflammatory diseases, including their clinical, immunological, genetic and metabolic-endrocrinological characteristics. [ Time Frame: Baseline, 1-2 years, 3-5 years, 10 years ]
- To collect long-term clinical and laboratory outcome parameters of the multiorgan inflammatory involvement and/or organ damage in patients with genetically defined or undifferentiated autoinflammatory (immune-dysregulatory) diseases. [ Time Frame: 1-2 years, 3-5 years, 10 years ]
- To evaluate clinical characteristics-disease manifestations and blood, body fluids, and tissue biomarkers during disease flares and quiescence [ Time Frame: 1-2 years, 3-5 years, 10 years ]
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02974595
|Contact: Raphaela T Goldbach-Mansky, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Raphaela T Goldbach-Mansky, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|