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:

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled

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. A patient may decline to have a bone marrow biopsy if the bone marrow sample is only for research purposes.

Bone marrow biopsy will be performed on children only if medically indicated. Research samples will be collected at that time only if the procedure does not increase the risks to the child.

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.

Special Instructions:

Currently Not Provided

Keywords:

Mastocytosis

Urticaria Pigmentosa

Classification

Tryptase

Mutations

Recruitment Keyword(s):

Mastocytosis

Condition(s):

Mastocytosis

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Allergy and Infectious Diseases

Contact(s):

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

Citation(s):

Metcalfe DD, Mastocytosis: molecular mechanisms and clinical disease heterogeneity. Leuk Res. 2001 Jul;25(7):577-82.

Valent P, Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001 Jul;25(7):603-25. Review.

Akin C, 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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 01/30/2009