A Study to Evaluate VTX2735 in Patients With Cryopyrin-associated Periodic Syndrome
Cryopyrin Associated Periodic SyndromeThis is a study to understand if taking VTX2735 is safe and effective in participants diagnosed with Cryopyrin-Associated Period Syndrome (CAPS). Approximately 10 patients will take VTX2735 Dose A or VTX2735 Dose B. The study consists of a screening/washout period of up to 28 weeks, a 2 week treatment period, a treatment withdrawal period of up to 2 weeks, another 2 week treatment period, and a 4 week follow up period. The maximum length of treatment is 4 weeks.
A Clinical Study of Tranilast in the Treatment of Cryopyrin-Associated Periodic Syndrome (CAPS)...
Cryopyrin-Associated Periodic SyndromesThis is a prospective cohort study to observe the efficacy and safety of tranilast in CAPS patients. The investigators would analyze the changes in Auto-Inflammatory Diseases Activity Index (AIDAI) before and after treatment as well as changes in inflammatory markers, patients' and physician's global assessment of disease activity to determine the efficacy and safety of tranilast.
Pathogenesis of Physical Induced Urticarial Syndromes
HypersensitivityImmediate3 moreBackground: Urticaria is a common itchy skin disorder that may occur spontaneously or on exposure to a physical trigger (called physical urticaria). Researchers are studying the genetic basis of a physically induced urticarial syndrome. Once called familial cold urticaria, this condition is now called familial cold autoinflammatory syndrome (FCAS). FCAS is an autoinflammatory disease, a group of inherited disorders characterized by unprovoked episodes of inflammation. Patients with FCAS often have hives, joint pain, and fever following general exposure to cold. Patients with FCAS have a mutation in a gene that makes a protein called cryopyrin. Cryopyrin seems to be involved with the production of a proinflammatory mediator called interleukin-1 (IL-1). Patients with FCAS and others with autoinflammatory syndromes have benefited from medication that blocks the effects of IL-1. Objectives: To investigate mechanisms that may cause physical hives or urticaria. To reproduce urticaria through challenge testing (procedures to test the skin for a reaction to a stimulus), followed by mast cell studies, measurement of IL-1, genetic studies, and other molecular studies to lead to a better understanding of urticaria and to design safe and more effective treatments. Eligibility: Patients between 6 months and 65 years of age with a documented history of clinically reproducible physical urticaria that triggers hives and that has been evaluated by a physician. Patients should have a letter of referral, including copies of pertinent medical history and laboratory studies, from a referring physician. Affected and nonaffected family members of such patients. Exclusion criteria include (1) the presence of conditions that may put the subject at undue risk, such as acute infection, severe thrombocytopenia (a lower than normal number of platelets in the blood), or significant cardiovascular disease; (2) any condition that would make the subject unsuitable for enrollment in this study; and (3) a history of HIV, other known immunodeficiency, or evidence of chronic Hepatitis B and/or C infection. Design: Researchers will conduct the following tests to verify which triggers cause the hives: History and physical exam to determine the relationship between the trigger and appearance of the hives. Blood samples for baseline screening (additional samples may be taken within 8 hours of triggering hives). Verification of hives using standard challenge testing. Procedures to trigger urticaria (the challenge testing) include dermatographism (stroking the skin), delayed pressure urticaria (direct pressure), cold-induced urticaria (cold exposure), cholinergic urticaria (exercise, hot water), solar urticaria (sun exposure), localized heat urticaria (direct heat exposure), aquagenic urticaria (room temperature water), and vibratory angioedema (direct vibratory stimulus exposure). Participants who have a positive history for hives and failed challenge testing (that is, hives resulted from the triggers) will be asked to provide a skin biopsy and additional bloods samples for research purposes. Participants will be asked to return to the clinic within 1 month if multiple triggers could not be verified during the initial visit, or to return for additional research evaluations, which may include a skin punch biopsy and blood sample collection. Patients may have to stay at the hospital overnight, if required to document the disease. Nonaffected family members who enroll in this protocol will provide samples for comparison with the family member who has a history of hives. Participants will receive a small financial compensation for the skin biopsy.
Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE,...
NOMIDDIRA3 moreBackground: 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: Clinical tests that help assess organ damage and function such as hearing, vision, memory, and learning tests. Imaging studies to characterize organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, and bone scans. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, blood samples for cytokine/biomarker assessment, and gene expression profiling. Questionnaires to assess disease activity and quality of life. 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.
Study of ATI-450 in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS)
Cryopyrin-Associated Periodic SyndromeThis is a Phase 2 study to investigate the safety and efficacy of ATI-450 for the Maintenance of Remission in Patients with Cryopyrin-Associated Periodic Syndrome (CAPS) Previously Managed with Anti-IL-1 Therapy.
Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease
NOMIDCINCA SyndromeThis 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
HL2351 CAPS Phase II Study
Cryopyrin-Associated Periodic Syndromes (CAPS)This is an open label, single arm trial to evaluate the efficacy, safety, and pharmacokinetics of HL2351 in patients with cryopyrin associated periodic syndromes (CAPS).
Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease
Nervous System MalformationsArthropathy3 moreThis study will evaluate the safety and effectiveness of anakinra (Kineret) for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurological, cutaneous and arthropathy (CINCA) syndrome. This disease can cause rash, joint deformities, brain inflammation, eye problems, and learning difficulties. Immune suppressing medicines commonly used to treat other pediatric rheumatologic diseases do not suppress NOMID symptoms and, if used long-term and in high doses, can cause harmful side effects. Anakinra, approved by The Food and Drug Administration for treating rheumatoid arthritis in adults, blocks a substance called IL-1 that may be an important factor in causing the inflammation in NOMID.
Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity...
Cold HypersensitivityThe Purpose of this trial is to investigate the efficacy and safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang(DSGOST) on Korean Patients With Cold Hypersensitivity in the Hands
Study of Safety, Tolerability and Efficacy of DFV890 in Participants With Familial Cold Auto-inflammatory...
Familial Cold Autoinflammatory SyndromeThis is an open-label, single-arm, multiple dose, phase II study to assess safety, tolerability and clinical efficacy of DFV890 in participants with FCAS. The study includes a screening period, a treatment period and a follow-up period. At most, the study will last up to 7 months (and up to 13 months for participants with a historical screening cold challenge prior to protocol amendment 04).