Protocol Details

Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, CRMO, Still's Disease, Behcet's Disease, and other Undifferentiated Autoinflammatory Diseases)

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	03-AR-0173
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	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Central Nervous System Abnormalities; Arthropathy; Urticaria; Papilledema; Autoinflammation
Recruitment Keyword(s)	Neonatal Onset Multisystem Imflammatory; Disease; NOMID
Condition(s)	Urticaria; Arthropathy; Lymphadenopathy; Nervous System Anomalies
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
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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Eligibility

INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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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Citations:

Hashkes PJ, Lovell DJ. Recognition of infantile-onset multisystem inflammatory disease as a unique entity. J Pediatr. 1997 Apr;130(4):513-5.

Sadiq SA, Gregson RM, Downes RN. The CINCA syndrome: arare cause of uveitis in childhood. J Pediatr Ophthalmol Strabismus. 1996 Jan-Feb;33(1):59-63.

Miura M, Okabe T, Tsubata S, Takizawa N, Sawaguchi T. Chronic infantile neurological cutaneous articular syndrome in a patient from Japan. Eur J Pediatr. 1997 Aug;156(8):624-6.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Raphaela T. Goldbach-Mansky, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) National Institutes of Health 10 CENTER DRIVE BLDG 10 RM 6D49 MSC 16508 BETHESDA MD 20892-1828 (301) 435-6243 goldbacr@mail.nih.gov	Elaine M. Novakovich 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) 451-1450 enovakovich@mail.cc.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00059748

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