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Protocol Number:
02-I-0277
- Title:
Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells
- Number:
02-I-0277
- Summary:
This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain.
Patients up to 80 years of age with mastocytosis may be eligible for this 1-day study. Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo the following tests and procedures:
-Medical history and physical examination.
-Laboratory studies, if medically indicated.
-Blood tests to identify genetic changes important in the growth, development, and functioning of mast cells.
-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.
Participants will receive an evaluation of their mastocytosis.
- Sponsoring Institute:
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National Institute of Allergy and Infectious Diseases (NIAID)
- Recruitment Detail
- Type:
Active Accrual Of New Subjects
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
Birth to 80 years of age.
Histiologic evidence of increased mast cell number by bone marrow and/or skin biopsy.
Must be under the care of a primary care physician to be enrolled.
Patients must be able and willing to undergo a bone marrow biopsy. A bone marrow biopsy will be pre-empted if, during the procedure, the patient experiences significant flushing, pain, hypotension or tachycardia for any reason, which places the patient at risk.
EXCLUSION CRITERIA:
No histiologic evidence of increased mast cell number by bone marrow and/or skin biopsy.
No primary care physician.
Anemia with hemoglobin less than 8, hematocrit less than 24.
Children weighing more than 4.5 kg will have a maximum of 30 cc blood drawn for studies.
- Special Instructions:
Currently Not Provided
- Keywords:
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Mastocytosis
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Urticaria Pigmentosa
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Classification
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Tryptase
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Mutations
- Recruitment Keywords:
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Mastocytosis
- Conditions:
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Mastocytosis
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Contacts:
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citations:
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Metcalfe DD, Akin C. Mastocytosis: molecular mechanisms and clinical disease heterogeneity. Leuk Res. 2001 Jul;25(7):577-82. Review. PMID: 11377683
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Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nunez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM, Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001 Jul;25(7):603-25. Review. PMID: 11377686
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Akin C, Schwartz LB, Kitoh T, Obayashi H, Worobec AS, Scott LM, Metcalfe DD. Soluble stem cell factor receptor (CD117) and IL-2 receptor alpha chain (CD25)levels in the plasma of patients with mastocytosis: relationships to disease severity and bone marrow pathology. Blood. 2000 Aug 15;96(4):1267-73.PMID: 10942367
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Warren Grant Magnuson Clinical Center (CC) National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/20/2004
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