Natural History Study for BEN

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00059423
Recruitment Status : Recruiting
First Posted : April 25, 2003
Last Update Posted : March 29, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Brief Summary:

In recent decades, hematologists have noticed that persons of African descent sometimes have lower white blood cell counts of a certain type, called granulocytes. These cells help to fight infections. The lower number of granulocytes in this situation does not appear to lead to more infections, and these individuals do not have any symptoms. This condition is called benign ethnic neutropenia (BEN), and is observed in a small percentage of individuals of African descent. This study will investigate the condition by studying people with and without BEN.

The goals of this study are to:

  1. identify individuals of African descent with BEN.
  2. determine the effects of two drugs, G-CSF and dexamethasone, on granulocyte production and movement.
  3. determine whether there are differences in those with and without BEN in the way genes are stimulated after the administration of G-CSF and dexamethasone.

Study participants will be asked to interview with the research team, undergo physical exams, donate a blood sample, and receive G-CSF by injection, followed by dexamethasone (orally) about three weeks later. They also will be required to undergo apheresis three times, a procedure in which blood is drawn from a donor and separated into its components. Some components are retained for research analyses, such as granulocytes, and small amount of blood; the remainder is returned by transfusion to the donor. This procedure will be required of participants before they receive G-CSF, the day after they receive G-CSF, and the day after they receive dexamethasone. Gene messages (mRNA will be isolated from granulocytes, and analyzed to better understand granulocyte growth and movement.

Condition or disease

Detailed Description:
Benign ethnic neutropenia (BEN) is defined by peripheral blood absolute neutrophil count less than 1.5 x 10 (9) per liter without an increase in infections. This condition has been described in individuals of African descent. Although these individuals have normal myeloid maturation on bone marrow examinations, they appear to release fewer neutrophils into the circulation when stimulated by hydrocortisone, compared to normal controls. This suggests that there may be differences in the regulation of neutrophil release or trafficking. In the past decade, granulocyte-colony stimulating factor (G-CSF) has been widely used in a variety of clinical settings, from patients with chemotherapy-induced neutropenia to normal volunteers for peripheral blood stem cell collection. G-CSF, however, has not been used in individuals with BEN. Furthermore, gene expression in neutrophil proliferation and trafficking has not been studied in these individuals. The purpose of this study are to (1) identify individuals with BEN; (2) follow the natural history of BEN; (3) determine if there is a familial inheritance pattern; (4) characterize and compare neutrophil response to dexamethasone and G-CSF; (5) compare the pattern of neutrophil gene expression by microarray analyses; and (6) determine if mutations are present at the DNA level to account for gene expression pattern differences in individuals of African descent with and without BEN at baseline, post dexamethasone, and post G-CSF stimulation.

Study Type : Observational
Estimated Enrollment : 99999999 participants
Official Title: Natural History and Molecular Characterization of Benign Ethnic Neutropenia in Individuals of African Descent
Study Start Date : April 23, 2003

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Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
  • Individuals of African descent of age 5 or greater
  • Normal renal function: creatinine <1.5 mg/dL and proteinuria <1+
  • Normal liver function: bilirubin <1.5 mg/dL and transaminases within normal limits
  • For control subjects: WBC within normal range (3,300-9,600/mm3), granulocytes (Bullet)1,500/mm3, platelets >150,000/mm3, hemoglobin > 11.5g/dL and normal MCV
  • For benign ethnic neutropenic subjects: two blood counts, at least 1 month apart, in the last 6 months, with granulocytes <1,500/mm3, platelet >150,000/mm3, hemoglobin >12.5g/dL, and normal MCV
  • Female volunteers of childbearing age should not be pregnant
  • Meets NIH Department of Transfusion Medicine (DTM) eligibility criteria for blood component donation for in vitro research uses (negative serologic tests for syphilis, hepatitis B and C, HIV, and HTLV-1)
  • Ability to give informed consent to participate in the protocol


  • Any underlying hematologic disorder including anemia, and sickle cell disease. Subjects with thalassemia or sickle cell trait are not excluded.
  • Current use of corticosteroids, e.g. prednisone, dexamethasone, or hydrocortisone. Corticosteroids must be discontinued at least one month prior
  • Active or chronic viral, bacterial, fungal, or parasitic infection. Any antibiotic use should be discontinued at least one month prior

4.2.4<TAB>History of autoimmune disease, such as rheumatoid arthritis or systemic lupus erythematosus, or positive anti-nuclear antibody (ANA ELISA) of 3 E.U. (ELISA units) or greater.

  • Low B12 or folate levels, or abnormal thyroid function tests
  • History of cancer or chemotherapy, except squamous carcinoma of the skin and cervical carcinoma in situ
  • Pregnant woman or positive urine pregnancy test
  • History of clinically significant cardiovascular disease (cardiology consultation may be obtained when clinically indicated)
  • Any positive serum screening test as listed below
  • Allergy to G-CSF or bacterial E. coli products
  • Active pulmonary disease or a pulse-ox level of less than 95% on screening exam

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00059423

Contact: Matthew M Hsieh, M.D. (301) 402-7687

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Matthew M Hsieh, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Responsible Party: National Heart, Lung, and Blood Institute (NHLBI) Identifier: NCT00059423     History of Changes
Other Study ID Numbers: 030168
First Posted: April 25, 2003    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: November 22, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Benign Ethnic Neutropenia
Healthy Volunteer

Additional relevant MeSH terms:
Leukocyte Disorders
Hematologic Diseases