3 Clinical Trials for Various Conditions
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.
This study will explore the possible cause of unexplained, or idiopathic, anaphylaxis. Anaphylaxis is a rapid, life-threatening, severe reaction that occurs suddenly after contact with an allergy-causing substance, usually a particular food, drug or stinging insect. The allergen triggers mast cells to release several substances, including histamine. Histamine is responsible for many of the symptoms that may occur, such as flushing, hives, swelling of the palms and soles or tongue and vocal cords, nasal congestion, itching and tearing of the eyes, shortness of breath and wheezing, stomach pain, vomiting, low blood pressure, loss of consciousness, shock, and, rarely, death. Severe episodes of anaphylaxis are treated with epinephrine (adrenaline), followed by oral antihistamines and steroids. In more than half of cases of anaphylaxis, a clear cause is not identified. These cases are called idiopathic anaphylaxis. There is no cure or long-term preventive therapy for patients with recurrent episodes of idiopathic anaphylaxis. People between 13 and 70 years of age who have idiopathic anaphylaxis, or have anaphylaxis that is caused by specific allergens such as food, venom, or drugs and medications may be eligible for this study. Participants are evaluated at the NIH Clinical Center with the following tests and procedures: * Medical history, physical examination and blood tests. * Bone marrow biopsy. For this test, the skin over the hipbone and the outer surface of the hipbone itself are numbed with local anesthesia. Then, a needle is inserted into the hipbone and a small amount of bone marrow is drawn into a syringe. The needle also cuts a small core of bone marrow, which is removed for analysis. * Other tests that may be needed for evaluation of the patient s condition.
This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or Immune Dysregulation. Patients determined by clinical history and outside evaluations to be of interest will be consented and enrolled into this study. Blood specimens, stored blood products and derivatives, saliva, hair, fingernail clippings, cord blood, umbilical cord, bone marrow, tissue biopsies and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding genetic and immunopathogenic bases of these diseases. Outside medical records may be obtained, and patient evaluations may be performed to correlate to research laboratory testing results.