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Study of Factors Regulating Mast Cell Proliferation

NCT ID: NCT00044122

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2002-09-18

Brief Summary

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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.

...

Detailed Description

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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.

Conditions

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Mastocytosis Monoclonal Bone Marrow Tryptase

Keywords

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Mastocytosis Natural History

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Adult Relatives

Relatives of patient with mastocytosis

No interventions assigned to this group

Adults with Mastocytosis

Adults with documented mastocytosis

No interventions assigned to this group

Pediatric Patients with Mastocytosis

Pediatric patients with documented mastocytosis

No interventions assigned to this group

Pediatric Relatives

Pediatric relatives of patients with mastocytosis

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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.


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

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.


Any condition that in the opinion of the investigator contraindicates participation in this study.
Minimum Eligible Age

1 Day

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Institute of Allergy and Infectious Diseases (NIAID)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Hirsh D Komarow, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Institute of Allergy and Infectious Diseases (NIAID)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Hye Jeong C Bolan, R.N.

Role: CONTACT

Phone: (301) 594-1233

Email: [email protected]

Hirsh D Komarow, M.D.

Role: CONTACT

Phone: (301) 594-2197

Email: [email protected]

Facility Contacts

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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Role: primary

References

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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.

Reference Type BACKGROUND
PMID: 24262698 (View on PubMed)

Chan 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.

Reference Type BACKGROUND
PMID: 24582309 (View on PubMed)

Cruse 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.

Reference Type BACKGROUND
PMID: 24745671 (View on PubMed)

Wilson 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.

Reference Type DERIVED
PMID: 21134978 (View on PubMed)

Related Links

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https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2002-I-0277.html

NIH Clinical Center Detailed Web Page

Other Identifiers

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02-I-0277

Identifier Type: -

Identifier Source: secondary_id

020277

Identifier Type: -

Identifier Source: org_study_id