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Study of Factors Regulating Mast Cell Proliferation

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00044122
Recruitment Status : Recruiting
First Posted : August 19, 2002
Last Update Posted : August 15, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Brief 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.

Condition or disease
Mastocytosis Monoclonal Bone Marrow Tryptase

Detailed Description:
This protocol is designed to examine those growth potentiating and inhibiting factors which regulate mast cell number and survival in patients with mastocytosis, and to explore the molecular basis of the disease process in hopes of improving therapy. Patients will carry the diagnosis of mastocytosis based on abnormal bone marrow biopsy and aspirate, abnormal skin biopsy, presence of urticaria pigmentosa, and if available, elevated serum tryptase level > 20 ng/ml and the presence of aberrant mast cell morphology and surface markers of CD2 and CD25. Medical work-up is in accordance with standard medical practice. Mastocytosis patients will be children and adults from two years to 80 years of age. The protocol is designated for up to a 1-year enrollment period; with only a small number of enrolled patients that will stay on study for more than one visit, based on investigator assessment of contribution to study objectives. Patients may be asked to re-enter this protocol at a later time for further research or entry into protocol 98-I-0027. This is not a therapeutic protocol. Treatment using FDA licensed/approved drugs may be provided to patients on a case-by-case basis at the discretion of the principal investigator. and This protocol does not involve infusion of any manipulated cells, viruses or DNA constructs into human subjects.

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Study Type : Observational
Estimated Enrollment : 550 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells
Actual Study Start Date : September 18, 2002

Adult Relatives
Relatives of patient with mastocytosis
Adults with Mastocytosis
Adults with documented mastocytosis
Pediatric Patients with Mastocytosis
Pediatric patient with documented mastocytosis
Pediatric Relatives
Pediatric relatives of patients with mastocytosis

Primary Outcome Measures :
  1. To obtain normal and neoplastic human mast cells from the bone marrow and peripheral blood of patients with mastocytosis in order to study the regulation of the proliferation and survival of these cells, and to assess the extent and classific... [ Time Frame: Patients return to NIH as necessary ]
    continuing collection of cells from subjects with mastocytosis for ongoing experimentation in laboratory

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
primary clinical

Birth to 80 years of age.

Histologic evidence of increased mast cell number by bone marrow and/or skin biopsy or documentation of mastocytosis in the skin

supported with a photograph of diagnostic skin lesion

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.

Subjects may enter study while pregnant and remain on study after becoming pregnant.


No primary care physician.

Anemia with hemoglobin less than 8 g/dL, hematocrit less than 24.


A biological relative with or without the diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy

Subject has a primary medical care provider outside the NIH

Subjects may enter study while pregnant and remain on study after becoming pregnant.


No primary care physician.

Anemia with hemoglobin < 8 g/dL, hematocrit < 24.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00044122

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Contact: Robin R. Eisch, R.N. (301) 443-1720
Contact: Dean D Metcalfe, M.D. (301) 761-6780

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
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Principal Investigator: Dean D Metcalfe, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID) Identifier: NCT00044122     History of Changes
Other Study ID Numbers: 020277
First Posted: August 19, 2002    Key Record Dates
Last Update Posted: August 15, 2019
Last Verified: August 7, 2019

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):

Additional relevant MeSH terms:
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Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Skin Diseases
Immune Complex Diseases
Immune System Diseases