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

NCT00091871 | Recruiting

• 2 other identifiers: 04028604-I-0286
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hypereosinophilic Syndrome; Eosinophilia

Keywords

Hypereosinophilia; Eosinophil; Familial; Interleukin 5; Natural History; Familial Hypereosinophilia; FE

Outcome Measures

Primary Outcomes (1)

• To study the natural history of familial hypereosinophilia (FE)

  Development of eosinophilic end organ manifestations

  30 years

Secondary Outcomes (2)

• To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis of FE

  30 years

• To identify early clinical or laboratory markers of disease progression

  30 year

Study Arms (2)

Affected family members

Family members with peripheral blood eosinophilia

Unaffected family members

Family members without peripheral blood eosinophilia

Eligibility Criteria

• Age: 1 Year - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Affected family members from the previously identified family with FE, as well as affected member of newly identified families with FE and unaffected family members from known families with FE, may enroll.

You may qualify if:

• In order to be eligible to participate in this study, an individual must meet all of the following 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.

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• 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)

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• 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.

  PMID: 9758611 BACKGROUND

• 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.

  PMID: 28226398 BACKGROUND

• 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.

  PMID: 14988154 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Eosinophilia; Hypereosinophilic Syndrome

Condition Hierarchy (Ancestors)

Leukocyte Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Amy D Klion, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Thomas W Brown, R.N.

CONTACT

(301) 402-7823; browntw@mail.nih.gov

Amy D Klion, M.D.

CONTACT

(240) 381-6073; amy.klion@nih.gov

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 17, 2004
• First Posted: September 20, 2004
• Study Start: June 8, 2005
• Last Updated: May 7, 2026

Record last verified: 2026-04-17

Locations

US (1)