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Protocol Details

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)

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3
Max Age: N/A

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Central Nervous System Abnormalities;

Recruitment Keyword(s)

Neonatal Onset Multisystem Imflammatory;


Nervous System Anomalies

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Arthritis and Musculoskeletal and Skin Diseases

This study will examine and test patients with neonatal onset multi-system inflammatory disease (NOMID) to learn more about the cause and course of the disease. It will study the disease signs and symptoms and the possible role of a gene called CIAS1, and it will develop a database to gather information on patients with NOMID in the United States and around the world. It will also serve as a screening protocol to offer eligible patients participation in a treatment protocol, if an appropriate one is available.

Patients with this rare disease usually develop a chronic rash in the first days to weeks of life that can affect the entire body. Almost all patients have eye problems such as inflammation, optic atrophy, or swelling of the optic nerve. Joint problems can lead to severe disability. Nervous system problems can include chronic meningitis, brain atrophy, seizures, mental retardation, migraine headaches, hearing loss and others.

Patients with NOMID whose symptoms include a rash since birth along with one of the following: joint disease or bone overgrowth; central nervous system problem, eye problems, enlarged liver and spleen, or elevated inflammatory markers (substances that indicate inflammation) may be eligible for this study.

Participants will be admitted to the NIH Clinical Center for 3 to 4 days for the following tests:

- Medical history and physical, neurological, and eye examinations.

- Hearing test.

- Completion of quality of life questionnaires.

- Evaluation of memory and learning ability.

- Urine test.

- Blood tests for genetic analysis, HIV infection, and other laboratory values.

- Blood test to evaluate growth hormones in order to learn more about how inflammation affects the patient s growth. For this test, a small amount of blood is drawn every 20 minutes for 8 hours while the patient is sleeping. The tests show if the rhythm of growth hormone and other substances in the body is normal. This test is optional.

- Lumbar puncture (spinal tap) to collect cerebrospinal fluid (CSF) from the spinal canal. For this procedure, a local anesthetic is given and a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle.

- Skin biopsy (surgical removal of tissue for microscopic examination) to characterize the rash and learn more about what causes it. The biopsy area is numbed and the superficial top layers of skin are shaved.

- Photographs of the patient in a bathing suit or underwear. These pictures are taken to document the skin rash and joint changes.

- X-rays and magnetic resonance (MRI) scans of the knees or other affected joints. X-rays will be done in patients who do not have recent x-rays (within the past 3 months) available. MRI will be done in patients who can lie in the scanner without requiring sedation.

- Brain MRI to evaluate the central nervous system involvement, done only in patients who can lie still for 45 minutes.

- Bone density scan to evaluate bone mineralization.

Rehabilitation evaluation to assess hand coordination, the ability to walk, and other functions.

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Subjects with known or suspected diagnosis of NOMID/CAPS, DIRA, CRMO, Still's disease, Behcet's disease, and other autoinflammatory diseases will be evaluated either at the outpatient or inpatient unit of the Clinical Center as indicated.

- Patients with NOMID/CAPS or DIRA, who are mutation positive for the disease or fulfill clinical criteria of the disease.

- Patients who have non infectious osteolytic bone lesions

- Patients who fulfill criteria for definite or probable Still's disease

- Patients who fulfill criteria for definite or probable Behcet's disease

- Patients with other suspected autoinflammatory diseases

There is:

- No age limit

- Patients or their legal guardians need to be able and willing to give informed consent and a pediatric patient needs to be willing to assent.

Relatives of patients with autoinflammatory diseases or healthy volunteers may be included for genetic testing in collaboration with Dr. Daniel Kastner's laboratory. We may also collect blood for serum and RNA analyses to establish a cohort of healthy controls that is matched in age, gender, and ethnicity to the study patients.


Active malignancy or any medical condition that in the opinion of the investigator would warrant exclusion

Inability to provide consent

Inability to return for follow up visits

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Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. J Immunol. 2014 Mar 15;192(6):2551-63. doi: 10.4049/jimmunol.1302884. Epub 2014 Feb 7.

Sibley C, Yazici Y, Tascilar K, Khan N, Bata Y, Yazici H, Goldbach-Mansky R, Hatemi G. Beh(SqrRoot)(Beta)et Syndrome Manifestations and Activity in the United States versus Turkey - A Cross-sectional Cohort Comparison. J Rheumatol. 2014 Jul;41(7):1379-84. doi: 10.3899/jrheum.131227. Epub 2014 Jun 15.

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Principal Investigator

Referral Contact

For more information:

Raphaela T. Goldbach-Mansky, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10 RM 6D47B
(301) 435-6243

Michelle O'Brien, R.N.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
Building 10
Room 6N226
10 Center Drive
Bethesda, Maryland 20892
(301) 496-2237

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


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