View clinical trials related to Urticaria.
Filter by:Background: - 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.
Background: - Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions. In other cases, mast cells grow abnormally and, in rare cases, can result in tumors. Mast cells also control other parts of the immune system. - Understanding why mast cells behave abnormally in allergic diseases is important to finding better ways for diagnosing and treating these potentially life-threatening disorders. Objectives: - To screen mast cells at the genetic and functional levels to characterize abnormalities, identify mutations, detect carrier states, and/or develop therapies for such disorders. - To create a library of information about inherited diseases of mast cell homeostasis and activation, including piebaldism (problems with skin and hair pigmentation), anaphylaxis (severe allergic reaction), allergies, asthma, atopic dermatitis (eczema), allergic rhinitis ( hay fever ), food allergies, urticaria/angioedema (hives/swelling), immunodeficiency diseases, and autoimmune diseases. Eligibility: - Patients between the ages of 1 and 80 years who have been referred by a physician and are known to have or be suspected of having an inherited disorder of mast cells, in particular patients (and their relatives) with piebaldism, allergies, or anaphylaxis that is not caused by allergies. Design: - Study population will consist of up to 1000 participants in a 5-year period. One third of the study population will consist of patients; the other two thirds will consist of biological relatives. - Evaluation is limited to testing on blood specimens; no treatment will be provided. - Clinical and research laboratory evaluations of patients will include the following: - Clinical evaluation and previous laboratory tests as documented in outside medical records by health care providers. A standard questionnaire will also be administered at the time of subject enrollment. - Blood collection for clinical laboratory testing, tailored to each subject s clinical evaluation where appropriate (5 ml). - Blood collection for research laboratory testing, tailored to each subject s clinical evaluation including genetic screening and assessment of mast cell growth and functioning and storage of additional frozen blood specimens for future studies (up to an additional 30 ml). - Evaluations of blood relatives will include the following: - Clinical evaluation as documented from outside medical records by health care providers and administration of a standard questionnaire. - Blood collection where indicated for diagnostic or research purposes. - After 12 consecutive months on the study, results from initial evaluation will be reviewed. Subjects with findings deemed to be of continued interest will be contacted and invited to remain as active participants to this protocol for another year, provided that they renew their consent to participate.