Study of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases)
- Autoinflammatory diseases can cause fevers, rashes, joint and nerve problems, ulcers, and many other problems. Researchers want to study people with these diseases and their relatives to learn more about the diseases.
- To study the signs and symptoms of autoinflammatory diseases and find out why they cause inflammation.
To find things in blood, body fluids, and genes that cause these diseases. To collect information about people with these diseases.
- People with NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and other undifferentiated autoinflammatory diseases.
- Healthy relatives.
- Participants will stay at or near the clinic for 3 5 days or more.
- All participants will have medical history, physical exam, and blood tests.
- Participants may have:
- Questions about their quality of life.
- Fluid taken by needle from a swollen joint.
- Tests of eyes, hearing, memory, and learning.
- Urine test.
- Questions about their symptoms.
- Small samples of skin taken.
- X-rays, CT scans, or MRI. For MRI, participants will lie still on a table in a metal cylinder for 45 minutes. The scanner makes loud knocking sounds. Participants will get earplugs. Some participants will have a contrast agent injected.
- Bone density scan. They will lie still for 5 minutes while pictures are taken.
- Coordination test.
- Fluid taken by needle from the spine.
- Pictures taken in a bathing suit or underwear.
- Gastrointestinal tests. Participants will drink a special solution. Then a tiny camera will go inside the body on a tube, or taken in a pill.
- Participants may return for follow-up visits.
Nervous System Anomalies
|Official Title:||Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still s Disease, Behcet s Disease, and Other Undifferentiated Autoinflammatory Diseases)|
|Study Start Date:||April 2003|
Autoinflammatory multisystem diseases are a group of diseases that are characterized by recurrent episodes of systemic inflammation as well as organ specific inflammation that can involve the skin, eyes, joints, bones, serosal surfaces, inner ear, and brain. The prominent role of IL-1 in the pathogenesis of these disorders has first become evident through the discovery of mutations in CIAS1 causing the cryopyrin-associated periodic syndromes (CAPS) including the most severe presentation Neonatal Onset Multisystem Inflammatory Disease (NOMID). We recently identified a new autoinflammatory disease DIRA (Deficiency of IL-1 Receptor Antagonist), a disease that is caused by mutations in IL1RN. Therapy with anakinra, the IL-1 receptor antagonist, can be life-saving. We also study additional rare diseases including CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures), the spectrum CRMO (Chronic Recurrent Multifocal Osteomyelitis), Still s disease, and Beh(SqrRoot)(Beta)et s disease (BD) all of which may involve dysregulation of IL-1. In this research protocol we seek to comprehensively evaluate affected patients clinically, genetically, immunologically, and endocrinologically. In addition we intend to evaluate long term outcome and biomarkers. Eligibility for ongoing and planned treatment protocols will be determined by screening patients in this protocol. We plan to evaluate patients on a consultative basis for other autoinflammatory diseases for possible enrollment into this study.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00059748
|Contact: Michelle O'Brien, R.N.||(301) firstname.lastname@example.org|
|Contact: Raphaela T Goldbach-Mansky, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Raphaela T Goldbach-Mansky, M.D.||National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)|