Bethesda, Maryland 20892


Eosinophils are a type of white blood cell. Elevated eosinophil levels can damage the heart, nerves, and other organs, in the syndrome known as hypereosinophilic syndrome (HES). Some individuals have a hereditary form of HES known as familial eosinophilia (FE). More research on the causation and mechanisms of HES is needed in order to design more effective and less toxic therapies. This study will investigate FE and its genetic causes, damage mechanisms, and disease markers (such as blood test abnormalities). It will enroll approximately 50 individuals (both adults and children) from a previously studied family with FE. This is a long-term study of indefinite duration. Participants will undergo yearly clinical examinations including medical history, physical examination, bloodwork, EKG, echocardiogram, and pulmonary function tests, with additional or more frequent examinations and tests as required. In addition, participants will donate blood and tissue for research purposes. Both adult and child participants will donate blood. At the initial evaluation, adult participants will donate bone marrow. During the study, some adult participants will also undergo a limited number of leukaopheresis sessions, in which blood is donated from one arm, the blood is separated into red blood cells and other components, and the red blood cells are returned into the donor's other arm.

Study summary:

Affected members of families with familial hypereosinophilia (FE) will be admitted on this protocol. A thorough clinical evaluation will be performed biyearly with emphasis on potential sequelae of eosinophil-mediated tissue damage. Blood cells, bone marrow and/or serum will also be collected to provide reagents (such as DNA, RNA, and specific antibodies) for use in the laboratory to address issues related to the genetic and immunologic basis of FE as well as its pathogenesis. It is anticipated that patients will undergo a more extensive evaluation than is generally available and that the specimens collected from them will prove to be valuable reagents for laboratory studies related to eosinophilia, eosinophil activation and function. While the study is not designed to address the question of therapy for FE, in patients for whom medical therapy is indicated (for either the hypereosinophilia itself or its sequelae), appropriate treatment will be instituted by our clinical service or the patients' local physicians. No experimental chemotherapy is involved in this protocol. Family members of affected family members may also be enrolled and provide research specimens on this protocol to help determine the underlying genetic causes of FE.


- INCLUSION CRITERIA (AFFECTED FAMILY MEMBERS): 1. 3-100 years of age 2. genetically related member of a previously identified family with FE 3. documented eosinophilia greater than 1,500/mm(3) on at least two occasions EXCLUSION CRITERIA (AFFECTED FAMILY MEMBERS): 1. an alternative explanation for eosinophilia greater than 1,500/mm(3) (ex. hypersensitivity reaction, parasitic infection) 2. Women who are pregnant or breastfeeding INCLUSION CRITERIA (UNAFFECTED FAMILY MEMBERS): 1. 3-100 years of age 2. extended family member of a study participant in 04-I-0286 EXCLUSION CRITERIA (UNAFFECTED FAMILY MEMBERS): 1. any condition that the investigator feels put the subject at unacceptable risk for participation in the study 2. Women who are pregnant or breastfeeding



Primary Contact:

Principal Investigator
Amy D Klion, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)

Amy D Klion, M.D.
Phone: (301) 435-8903

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222

Site Status: Recruiting

Data Source:

Date Processed: October 09, 2019

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