View clinical trials related to NOMID.
Filter by:Background: Some diseases cause chronic inflammation with intermittent flares in the body. These are called autoinflammatory diseases. They can cause fevers, rashes, ulcers, and other problems. Researchers want to learn more about the causes and effects of these diseases. They hope this will improve how the disease is managed in the future. Objectives: To understand the underlying immune dysregulation To identify the genetic cause To translate our findings into novel treatments that improve patients disease outcomes Eligibility: Patients with known NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still's Disease, and with other yet undifferentiated autoinflammatory diseases. Unaffected relatives of participants with a known or undifferentiated autoinflammatory disease Healthy adult volunteers at least 18 years of age Design: Participants will be screened with blood sample and medical history. They may provide copies of their medical records. Enrolled participants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests, and other evaluations depending on the extent of their autoinflammatory disease. Participants may also expect the following assessments: 1. Clinical tests that help assess organ damage and function such as hearing, vision, memory, and learning tests. 2. Imaging studies to characterize organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, and bone scans. 3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, blood samples for cytokine/biomarker assessment, and gene expression profiling. 4. Questionnaires to assess disease activity and quality of life. 5. If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected, a skin biopsy if skin inflammation is present, and/or gastrointestinal and pulmonary procedures if they are clinically indicated. Participants may return for a single follow-up visit or for long-term follow-up visits depending on their disease and willingness to return. Long-term follow-up may occur for up to 15 years on this protocol.
This study will examine whether a medicine called canakinumab is safe and effective for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. This disease can cause rash, joint deformities, brain inflammation, problems with the eyes and learning difficulties. Canakinumab is an experimental drug that inhibits the action of a protein produced by the body called human IL-1beta, which is responsible for the symptoms in NOMID and also contributes to many other kinds of inflammatory diseases. Patients 2 years of age and older with NOMID / CINCA may be eligible for this study. Participants undergo the following procedures: Screening Phase - Medical history and review of medical records - Blood tests - Daily diary of symptoms and medicines take Washout/Lead-in Phase - Discontinuation of anakinra or other medications, a 6 to 48-hour run-in period (only for patients who discontinued anakinra or other IL-1 blocking therapy). Treatment Phase - Injection of canakinumab under the skin every 8 weeks for 6 months - Monitoring and evaluations during treatment, including: - Quality-of-life questionnaires and daily diary - Vital signs measurements (heartbeat, blood pressure, temperature) - Blood tests - Electrocardiogram - Tuberculosis skin test - Neurological, eye and skin examinations at beginning and end of study - Cognitive evaluation at beginning and end of study - Lumbar puncture (spinal tap) at the beginning of the study, 2 weeks after the second dosing of canakinumab and at the end of the study - X-rays and bone density scan at beginning and end of study - Magnetic resonance imaging (MRI) of the head at beginning and end of study Follow-up Phase - Monthly clinic visits after the last dose of canakinumab for a minimum of 60 days End-of-Study Evaluation - Series of tests 8 weeks after last dose of canakinumab to evaluate treatment response and side effects