A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
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|ClinicalTrials.gov Identifier: NCT00091871|
Recruitment Status : Recruiting
First Posted : September 20, 2004
Last Update Posted : October 4, 2019
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.
|Condition or disease|
|Eosinophilia Hypereosinophilic Syndrome|
|Study Type :||Observational|
|Estimated Enrollment :||50 participants|
|Official Title:||A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression|
|Actual Study Start Date :||June 8, 2005|
Affected family members
Family members with peripheral blood eosinophilia
Unaffected family members
Family members without peripheral blood eosinophilia
- To study the natural history of familial hypereosinophilia [ Time Frame: 30 years ]Development of eosinophilic end organ manifestations
- To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis in FE [ Time Frame: 30 years ]Description of immunologic features of FE; identification of genetic driver(s) of FE
- To identify early clinical or laboratory markers of disease progression in FE [ Time Frame: 30 years ]Clinical or laboratory markers that become abnormal prior to disease progression in FE.
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 ClinicalTrials.gov identifier (NCT number): NCT00091871
|Contact: Amy D Klion, M.D.||(301) firstname.lastname@example.org|
|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 email@example.com|
|Principal Investigator:||Amy D Klion, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|