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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)



Interleukin 5;
Natural History

Recruitment Keyword(s)

Familial Hypereosinophilia;


Hypereosinophilic Syndrome

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Allergy and Infectious Diseases

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.

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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.


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)

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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.

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. Epub 2004 Feb 26.

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Principal Investigator

Referral Contact

For more information:

Amy D. Klion, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
NIHBC 04 BG RM B1-28
(301) 435-8903

Thomas W. Brown Jr, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 12C103-20
10 Center Drive
Bethesda, Maryland 20892
(301) 402-7823

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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