Ignite Creation Date:
2025-12-25 @ 4:49 AM
Ignite Modification Date:
2025-12-26 @ 3:51 AM
Study NCT ID:
NCT00047918
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
2002-10-22
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008415', 'term': 'Mastocytosis'}, {'id': 'D000707', 'term': 'Anaphylaxis'}, {'id': 'D005483', 'term': 'Flushing'}], 'ancestors': [{'id': 'D009372', 'term': 'Neoplasms, Connective Tissue'}, {'id': 'D018204', 'term': 'Neoplasms, Connective and Soft Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D000090362', 'term': 'Mast Cell Activation Disorders'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D006969', 'term': 'Hypersensitivity, Immediate'}, {'id': 'D006967', 'term': 'Hypersensitivity'}, {'id': 'D012877', 'term': 'Skin Manifestations'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'count': 100}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2002-10'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2004-08', 'completionDateStruct': {'date': '2004-08'}, 'lastUpdateSubmitDate': '2008-03-03', 'studyFirstSubmitDate': '2002-10-22', 'studyFirstSubmitQcDate': '2002-10-22', 'lastUpdatePostDateStruct': {'date': '2008-03-04', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2002-10-23', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['Mast Cells', 'Bone Marrow', 'Flushing', 'Mutations', 'Mastocytosis', 'Anaphylaxis'], 'conditions': ['Mastocytosis', 'Anaphylaxis']}, 'referencesModule': {'references': [{'pmid': '11146694', 'type': 'BACKGROUND', 'citation': 'Neugut AI, Ghatak AT, Miller RL. Anaphylaxis in the United States: an investigation into its epidemiology. Arch Intern Med. 2001 Jan 8;161(1):15-21. doi: 10.1001/archinte.161.1.15.'}, {'pmid': '10706069', 'type': 'BACKGROUND', 'citation': 'Akin C, Kirshenbaum AS, Semere T, Worobec AS, Scott LM, Metcalfe DD. Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. Exp Hematol. 2000 Feb;28(2):140-7. doi: 10.1016/s0301-472x(99)00145-9.'}, {'pmid': '12091362', 'type': 'BACKGROUND', 'citation': 'Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood. 2002 Jul 15;100(2):661-5. doi: 10.1182/blood-2002-01-0203.'}]}, 'descriptionModule': {'briefSummary': 'This study will 1) identify characteristics of bone marrow mast cells in patients with unexplained anaphylaxis and flushing or with mastocytosis and 2) determine whether mastocytosis might be the underlying cause of unexplained anaphylaxis in some patients with this condition. Anaphylaxis is a hypersensitivity reaction in which patients may have flushing, hives, stuffy nose, red itchy eyes, difficulty breathing, swelling of the tongue, throat, palms and soles, abdominal cramping, lightheadedness, decreased blood pressure, and loss of consciousness. Although allergens are a common cause of anaphylactic episodes, no cause can be identified in up to 50 percent of patients who have recurrent events. Mastocytosis is a disease of excessive mast cells in tissues such as skin and bone marrow. These cells can release chemicals that result in itching, blisters, flushing, bone pain, and abdominal pain.\n\nPatients 18 years of age and older who have episodes of anaphylaxis or flushing with no apparent cause or who have mastocytosis may be eligible for this study. Participants will have a medical history and physical examination; blood tests to identify genetic changes that are important in the growth, development, and functioning of human mast cells; and bone marrow aspiration and biopsy. For the bone marrow procedure, the skin over the hipbone and the outer surface of the bone itself are numbed with local anesthesia. Then, a special needle is inserted into the hipbone and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted into the same area to collect a small piece of the bone marrow. Additional procedures may include allergen testing, urinalysis, and 24-hour urine collection.\n\nParticipants will return to NIH for reassessment of disease status in 12 to 18 months. The follow-up evaluation will include a history and physical examination, blood tests, possible repeat bone marrow and aspiration in patients whose clinical signs or symptoms change significantly, and other tests as clinically indicated.\n\nFirst-degree relatives (parents, children, siblings) may be enrolled in limited instances to provide a blood sample for genetic analysis related to mast cell development and function for comparison with that of patients when they have similar symptoms.', 'detailedDescription': 'Anaphylaxis is a severe systemic hypersensitivity reaction caused by release of mediators from mast cells and basophils. Signs and symptoms of anaphylaxis may include generalized flushing, hives, stuffy nose, red and itchy eyes, difficulty in breathing, swelling of the tongue, throat, palms and soles, gastrointestinal cramping, lightheadedness and loss of consciousness. Although most common causes of anaphylaxis include foods, drugs and stinging insects, a causative factor is not identified in up to 50% of the patients with recurrent anaphylactic episodes. Mast cells are important mediators of anaphylaxis. This study will examine the hypothesis that some patients with unexplained anaphylaxis may have systemic mastocytosis, a disorder of pathologic mast cell proliferation, as an underlying cause. In addition, it will investigate hematopoietic cells, which result in their tissue mast cells being more susceptible to degranulation. The study will enroll patients with mastocytosis with or without flushing or anaphylaxis, and patients with unexplained flushing or anaphylaxis. Patients will receive a clinical evaluation, blood tests and a bone marrow biopsy and aspirate. Research studies planned include flow cytometric analysis of blood and bone marrow cells, investigation of mutations or polymorphisms in genes involved in mast cell growth and differentiation, determination of surrogate disease markers and examination of mast cell growth and function. The study will improve the understanding of the mechanisms involved in anaphylactic reactions, which could in turn lead to development of strategies to better prevent or treat the episodes.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': "INCLUSION CRITERIA FOR PATIENTS WITH MASTOCYTOSIS:\n\nAge equal to or greater than 18 years.\n\nDiagnosis of mastocytosis established by presence of typical urticaria pigmentosa skin lesions or a bone marrow biopsy.\n\nLetter of referral from prospective study participant's local doctor.\n\nAbility to give informed consent.\n\nEXCLUSION CRITERIA FOR PATIENTS WITH MASTOCYTOSIS:\n\nAge less than 18 years.\n\nLack of a referral physician.\n\nPresence of co-morbid conditions which, in the judgment of the investigator or the referring physician, may put the patient at undue risk for travel (such as an acute infection, severe thrombocytopenia).\n\nInability to provide informed consent.\n\nInability or refusal to undergo a bone marrow biopsy and aspirate.\n\nKnown allergy to latex or Lidocaine.\n\nINCLUSION CRITERIA FOR PATIENTS WITH UNEXPLAINED FLUSHING OR ANAPHYLAXIS:\n\nAge equal to or greater than 18 years.\n\nPresence of flushing or anaphylaxis with negative workup for known causes such as carcinoid syndrome, pheochromocytoma, food allergy.\n\nAbility to give informed consent.\n\nEXCLUSION CRITERIA FOR PATIENTS WITH UNEXPLAINED FLUSHING OR ANAPHYLAXIS:\n\nSame as for patients with mastocytosis.\n\nKnown cause for anaphylaxis or flushing.\n\nFrequent life-threatening anaphylactic episodes: History of 6 or more separate attacks resulting in ER visits in the 6 months preceding the referral.\n\nINCLUSION CRITERIA FOR RELATIVE:\n\nTo have a first-degree relative accepted to the protocol as a patient with unexplained anaphylaxis, flushing or mastocytosis.\n\nAbility to give informed consent. For minors, ability of the parent to give informed consent.\n\nThere are no age restrictions."}, 'identificationModule': {'nctId': 'NCT00047918', 'briefTitle': 'Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Investigation of Hematologic Parameters in Mastocytosis and Idiopathic Anaphylaxis', 'orgStudyIdInfo': {'id': '030010'}, 'secondaryIdInfos': [{'id': '03-I-0010'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Institute of Allergy and Infectious Diseases (NIAID)', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Institute of Allergy and Infectious Diseases (NIAID)', 'class': 'NIH'}}}}