Study of Factors Regulating Mast Cell Proliferation

  • participants needed
  • sponsor
    National Institute of Allergy and Infectious Diseases (NIAID)
Updated on 10 August 2022
Accepts healthy volunteers


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.


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. Mastocytosis patients will include children and adults from zero years to 80 years of age. Unaffected relatives (age 2 to 80 years) may also be enrolled. 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. Participants will undergo standard physical exam, medical history review, and blood collection for clinical and research laboratory evaluations. We will collect clinical data and biological specimens for research evaluation from individuals undergoing clinically indicated diagnostic procedures. Some patients may participate in research evaluations including buccal swab collection, dietary intake assessment, stool collection, exercise challenge, microbiome studies, and activity tracking. These studies are optional. Patients may be asked to re-enter this protocol at a later time for further follow-up.

Condition Mastocytosis, Monoclonal, Bone Marrow, Tryptase
Clinical Study IdentifierNCT00044122
SponsorNational Institute of Allergy and Infectious Diseases (NIAID)
Last Modified on10 August 2022


Yes No Not Sure

Inclusion Criteria

Two to 80 years of age
A biological relative without the diagnosis of mastocytosis by skin examination or
histologic evidence in a skin or bone marrow biopsy
Participant has a primary medical care provider outside the NIH
Ability to provide informed consent

Exclusion Criteria

Any condition that in the opinion of the investigator contraindicates participation in this
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How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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