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A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 28, 2016 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ) Identifier:
First received: September 17, 2004
Last updated: April 21, 2017
Last verified: November 28, 2016

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 20 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.

Familial Hypereosinophilia

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • To study the natural history of familial hypereosinophilia (FE) [ Time Frame: Throughout the course of the study ]
  • To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis in FE [ Time Frame: Throughout the course of the study ]
  • To identify early clinical or laboratory markers of disease progression in FE [ Time Frame: Throughout the course of the study ]

Estimated Enrollment: 50
Study Start Date: September 14, 2004
Detailed Description:
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.

Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • genetically related member of a previously identified family with FE
  • documented eosinophilia greater than 1,500/mm(3) on at least two occasions


-an alternative explanation for eosinophilia greater than 1,500/mm(3) (ex. hypersensitivity reaction, parasitic infection)

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00091871

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

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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Principal Investigator: Amy D Klion, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID) Identifier: NCT00091871     History of Changes
Other Study ID Numbers: 040286
Study First Received: September 17, 2004
Last Updated: April 21, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Familial Hypereosinophilia

Additional relevant MeSH terms:
Disease Progression
Disease Attributes
Pathologic Processes
Leukocyte Disorders
Hematologic Diseases processed this record on April 28, 2017