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.

Condition
Urticaria Arthropathy Lymphadenopathy Nervous System Anomalies

Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a chronic inflammatory disorder characterized by early onset of urticarial rash, arthropathy, epiphyseal overgrowth, lymphadenopathy, and central nervous anomalies. We have recently identified a spontaneously occurring genetic mutation in CIAS1, a gene located at chromosome 1q44, that is present in about 50% of children with NOMID. In vitro functional studies have suggested that the genetic defect identified may be directly associated with an increase in IL-1 activity. In this research protocol we seek to comprehensively evaluate affected children clinically, genetically, immunologically, and endrocrinologically to better characterize the abnormalities in these patients. Sensitive imaging modalities will be used to visualize bone and cartilage findings. These studies will help to develop a better understanding of the pathophysiology underlying this syndrome. Data from these studies will be used to develop a comprehensive treatment approach.

Genders Eligible for Study:  Both

Criteria

INCLUSION CRITERIA:
Subjects with known or suspected diagnosis of NOMID will be evaluated either at the outpatient or inpatient unit of the Clinical Center as indicated. Patients with, but not limited to, clinical symptoms of persistent urticaria since birth, arthropathy, and central nervous system abnormalities are eligible to be included in the protocol.
Age over 2 years
Include a rash since birth and one of the following symptoms:
arthropathy, bone overgrowth, CNS anomaly such as chronic meningitis, increased intracranial pressure, eye involvement,
hepatosplenomegaly, elevated inflammatory markers.
Patient's ability and willingness to give informed consent or in pediatric patients, the parent's willingness to give informed consent and the parent's willingness to give informed consent and the patient's willingness to assent to the protocol whenever possible.
EXCLUSION CRITERIA:
None if patients fulfill inclusion criteria.

Maryland
      National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  030173; 03-AR-0173
Record last reviewed:  November 3, 2003
Last Updated:  November 3, 2003
Record first received:  May 5, 2003
ClinicalTrials.gov Identifier:  NCT00059748
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08