Study of Factors Regulating Mast Cell Proliferation
Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells
2 other identifiers
observational
600
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
1 active site
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Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 17, 2002
CompletedFirst Posted
Study publicly available on registry
August 19, 2002
CompletedStudy Start
First participant enrolled
September 18, 2002
CompletedApril 29, 2026
August 29, 2025
August 17, 2002
April 28, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (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 classificati...
continuing collection of cells from subjects with mastocytosis for ongoing experimentation in laboratory
Patients return to NIH as necessary
Study Arms (4)
Adult Relatives
Relatives of patient with mastocytosis
Adults with Mastocytosis
Adults with documented mastocytosis
Pediatric Patients with Mastocytosis
Pediatric patients with documented mastocytosis
Pediatric Relatives
Pediatric relatives of patients with mastocytosis
Eligibility Criteria
primary clinical
You may qualify if:
- Participants with mastocytosis zero to 80 years of age may participate in telehealth visits, and two to 80 years of age may participate on-site at NIH Clinical Center.
- 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 lesions
- Must be under the care of a primary care physician to be enrolled.
- Ability to provide informed consent.
You may not qualify if:
- Anemia with hemoglobin less than 8 g/dL, hematocrit less than 24.
- Any condition that in the opinion of the investigator contraindicates participation in this study.
- 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.
- Any condition that in the opinion of the investigator contraindicates participation in this study.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (5)
Carter MC, Metcalfe DD, Komarow HD. Mastocytosis. Immunol Allergy Clin North Am. 2014 Feb;34(1):181-96. doi: 10.1016/j.iac.2013.09.001. Epub 2013 Oct 7.
PMID: 24262698BACKGROUNDChan EC, Bai Y, Kirshenbaum AS, Fischer ER, Simakova O, Bandara G, Scott LM, Wisch LB, Cantave D, Carter MC, Lewis JC, Noel P, Maric I, Gilfillan AM, Metcalfe DD, Wilson TM. Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype. J Allergy Clin Immunol. 2014 Jul;134(1):178-87. doi: 10.1016/j.jaci.2013.12.1090. Epub 2014 Feb 28.
PMID: 24582309BACKGROUNDCruse G, Metcalfe DD, Olivera A. Functional deregulation of KIT: link to mast cell proliferative diseases and other neoplasms. Immunol Allergy Clin North Am. 2014 May;34(2):219-37. doi: 10.1016/j.iac.2014.01.002. Epub 2014 Mar 12.
PMID: 24745671BACKGROUNDKrausfeldt LE, Cao V, Rodrigues R, Henderson WA, Eisch R, Scott LM, Metcalfe DD, Komarow HD. Evidence for dysbiosis in the gut microbiome of patients with systemic mastocytosis. J Allergy Clin Immunol Glob. 2025 Oct 9;5(1):100578. doi: 10.1016/j.jacig.2025.100578. eCollection 2026 Jan.
PMID: 41583012DERIVEDWilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, Carter M, Maric D, Robyn J, Metcalfe DD. Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. Haematologica. 2011 Mar;96(3):459-63. doi: 10.3324/haematol.2010.031690. Epub 2010 Dec 6.
PMID: 21134978DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Hirsh D Komarow, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 17, 2002
First Posted
August 19, 2002
Study Start
September 18, 2002
Last Updated
April 29, 2026
Record last verified: 2025-08-29
Data Sharing
- IPD Sharing
- Will not share