A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
NCT ID: NCT00091871
Last Updated: 2025-12-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
50 participants
OBSERVATIONAL
2005-06-08
Brief Summary
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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.
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Detailed Description
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Affected and unaffected members of families with familial hypereosinophilia (FE) will be enrolled and evaluated on this protocol. For affected family members, a thorough clinical evaluation will be performed 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 affected family members 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. Unaffected family members will provide research specimens on this protocol to help determine the underlying genetic causes of FE.
Objectives:
Primary Objective: To study the natural history of familial hypereosinophilia (FE)
Secondary Objectives:
1. To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis in FE
2. To identify early clinical or laboratory markers of disease progression
Endpoints: Primary Endpoint: Development of eosinophilic end organ manifestations
Secondary Endpoints:
1a. Description of immunologic features of FE.
1b. Identification of genetic driver(s) of FE
2\. Identification of clinical or laboratory markers that become abnormal prior to disease progression in FE
Conditions
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Study Design
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FAMILY_BASED
PROSPECTIVE
Study Groups
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Affected family members
Family members with peripheral blood eosinophilia
No interventions assigned to this group
Unaffected family members
Family members without peripheral blood eosinophilia
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Stated willingness to comply with all study procedures and availability for the duration of the study
* Male or female, aged 1-100 years of age
* Genetically related member of a previously identified family with FE
* Ability of subject to understand and the willingness to sign a written informed consent document.
Exclusion Criteria
* Any condition that the investigator feels put the subject at unacceptable risk for participation in the study
* Pregnancy (in family members who do not have eosinophilia)
1 Year
100 Years
ALL
Yes
Sponsors
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National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Responsible Party
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Principal Investigators
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Amy D Klion, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Institute of Allergy and Infectious Diseases (NIAID)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
References
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Rioux JD, Stone VA, Daly MJ, Cargill M, Green T, Nguyen H, Nutman T, Zimmerman PA, Tucker MA, Hudson T, Goldstein AM, Lander E, Lin AY. Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet. 1998 Oct;63(4):1086-94. doi: 10.1086/302053.
Prakash Babu S, Chen YK, Bonne-Annee S, Yang J, Maric I, Myers TG, Nutman TB, Klion AD. Dysregulation of interleukin 5 expression in familial eosinophilia. Allergy. 2017 Sep;72(9):1338-1345. doi: 10.1111/all.13146. Epub 2017 Apr 18.
Klion AD, Law MA, Riemenschneider W, McMaster ML, Brown MR, Horne M, Karp B, Robinson M, Sachdev V, Tucker E, Turner M, Nutman TB. Familial eosinophilia: a benign disorder? Blood. 2004 Jun 1;103(11):4050-5. doi: 10.1182/blood-2003-11-3850. Epub 2004 Feb 26.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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04-I-0286
Identifier Type: -
Identifier Source: secondary_id
040286
Identifier Type: -
Identifier Source: org_study_id
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