Bethesda, Maryland 20892


Purpose:

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.


Study summary:

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.


Criteria:

- PARTICIPANT INCLUSION CRITERIA: 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. PARTICIPANT EXCLUSION CRITERIA: No primary care physician. Anemia with hemoglobin less than 8 g/dL, hematocrit less than 24. RELATIVE INCLUSION CRITERIA: 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. RELATIVE EXCLUSION CRITERIA: No primary care physician. Anemia with hemoglobin < 8 g/dL, hematocrit < 24.


Study is Available At:


Original ID:

020277


NCT ID:

NCT00044122


Secondary ID:

02-I-0277


Study Acronym:


Brief Title:

Study of Factors Regulating Mast Cell Proliferation


Official Title:

Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells


Overall Status:

Recruiting


Study Phase:

N/A


Genders:

N/A


Minimum Age:

2 Years


Maximum Age:

80 Years


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

National Institutes of Health Clinical Center (CC)


Oversight Authority:

United States: Federal Government


Reasons Why Stopped:


Study Type:

Observational


Study Design:


Number of Arms:

0


Number of Groups:

4


Total Enrollment:

550


Enrollment Type:

Anticipated


Overall Contact Information

Official Name:Dean D Metcalfe, M.D.
Principal Investigator
National Institute of Allergy and Infectious Diseases (NIAID)
Primary Contact:Robin R. Eisch, R.N.
(301) 443-1720
eischar@mail.nih.gov
Backup Contact:Dean D Metcalfe, M.D.
(301) 761-6780
dmetcalfe@niaid.nih.gov

Study Dates

Start Date:September 18, 2002
Verification Date:August 7, 2019
Last Changed Date:August 14, 2019
First Received Date:August 17, 2002

Study Outcomes

Outcome Type:Primary Outcome
Measure: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
Safety Issues:False
Description:continuing collection of cells from subjects with mastocytosis for ongoing experimentation in laboratory

Study Interventions

There are no available Study Interventions

Study Arms

Study Arm Type:Other
Arm Name:Adult Relatives
Description:Relatives of patient with mastocytosis
Study Arm Type:Other
Arm Name:Adults with Mastocytosis
Description:Adults with documented mastocytosis
Study Arm Type:Other
Arm Name:Pediatric Patients with Mastocytosis
Description:Pediatric patient with documented mastocytosis
Study Arm Type:Other
Arm Name:Pediatric Relatives
Description:Pediatric relatives of patients with mastocytosis

Study Agencies

Agency Class:NIH
Agency Type:Lead Sponsor
Agency Name:National Institute of Allergy and Infectious Diseases (NIAID)

Samples and Retentions

Study Population: primary clinical
Sample Method:Probability Sample

Study References

Reference Type:Reference
Citation: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. Review.
PMID:24262698
Reference Type:Reference
Citation: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.
PMID:24582309
Reference Type:Reference
Citation: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. Review.
PMID:24745671

Data Source: ClinicalTrials.gov

Date Processed: November 18, 2019

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