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Sponsored by: |
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00059748 |
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:
Rehabilitation evaluation to assess hand coordination, the ability to walk, and other functions.
Condition |
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Urticaria Arthropathy Lymphadenopathy Nervous System Anomalies |
Study Type: | Observational |
Official Title: | Studies of the Natural History and Pathogenesis of Neonatal Onset Multisystem Inflammatory Disease (NOMID) |
Study Start Date: | April 2003 |
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 percent 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.
Ages Eligible for Study: | 3 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
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.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 030173, 03-AR-0173 |
Study First Received: | May 5, 2003 |
Last Updated: | August 16, 2008 |
ClinicalTrials.gov Identifier: | NCT00059748 |
Health Authority: | United States: Federal Government |
Central Nervous System Abnormalities Arthropathy Urticaria Papilledema |
Auto Inflammation Neonatal Onset Multisystem Imflammatory Disease NOMID |
Lymphatic Diseases Hypersensitivity Papilledema Skin Diseases Musculoskeletal Diseases Nervous System Malformations |
Joint Diseases Hypersensitivity, Immediate Urticaria Congenital Abnormalities Chronic, Infantile, Neurological, Cutaneous, Articular syndrome Inflammation |
Skin Diseases, Vascular Immune System Diseases Nervous System Diseases |