Recruiting

Observational Study

Sponsor:

National Institute of Allergy and Infectious Diseases (NIAID)

Code:

NCT00044122

Conditions

Mastocytosis

Monoclonal

Bone Marrow

Tryptase

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

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.

...

Conditions

Mastocytosis

Monoclonal

Bone Marrow

Tryptase

Study ID

NCT00044122

Start date

Sep 18, 2002

Status verified date

Sep 2, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • PATIENT PARTICIPANT 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.

PATIENT PARTICIPANT EXCLUSION CRITERIA:

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

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

RELATIVE 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.

RELATIVE EXCLUSION CRITERIA:

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

Study Design

Enrollment

700 participants

Anticipated

Interventions and Outcome Measures

Arms

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

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 classificati... [ Time Frame: Patients return to NIH as necessary ]

Central Contacts and Locations

Central contacts

Hye Jeong C Bolan, R.N.

(301) 594-1233bolanhy@mail.nih.gov

Hirsh D Komarow, M.D.

(301) 594-2197komarowh@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

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

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Last update posted

Sep 8, 2026

Last verified

Sep 2, 2026

Keywords

  • Mastocytosis
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Allergy and Infectious Diseases (NIAID) on 2026-09-08.