Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.
J D Rioux, V A Stone, M J Daly...
https://pubmed.ncbi.nlm.nih.gov/9758611Actively Recruiting
Age: 1Year - 100Years
All Genders
Healthy Volunteers
ID00091871
A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-05-07
50
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying familial hypereosinophilia (FE), a hereditary form of hypereosinophilic syndrome (HES) characterized by elevated eosinophil levels that can damage organs such as the heart and nerves. This observational study aims to understand the natural history, genetic causes, and disease markers of FE by enrolling about 50 individuals from a previously studied family, including both affected and unaffected members. Participants will be categorized into groups based on whether they have peripheral blood eosinophilia. They will undergo yearly clinical evaluations including medical history, physical exams, bloodwork, EKG, echocardiograms, and lung function tests. Adult participants will provide bone marrow samples at the start, and some adults may also participate in leukapheresis sessions where blood is processed to separate components for research. Unaffected family members will provide specimens to help identify genetic causes. Throughout the study, participants will donate blood and tissue samples for research. Assessments include monitoring for eosinophil-related organ damage and immunologic and molecular features of the disease. The primary outcome is the development of eosinophilic end organ manifestations over 30 years. Safety and therapy needs will be managed by clinicians, and the study follows participants indefinitely to track disease progression and markers.
CONDITIONS
Brief Title
A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
Who Can Participate
Age: 1Year - 100Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Willingness to comply with all study procedures and be available for the study duration
- Male or female aged 1 to 100 years
- Genetically related member of a previously identified family with familial eosinophilia (FE)
- Ability to understand and willingness to sign informed consent
You will not qualify if you...
- Any condition that puts the subject at unacceptable risk for participation
- Pregnancy (in family members who do not have eosinophilia)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Initial assessments at enrollment
Affected family members undergo a thorough clinical evaluation focusing on potential tissue damage from eosinophils. Blood cells, bone marrow, and serum samples are collected for genetic and immunologic research. Unaffected family members provide research specimens to help determine genetic causes.
1 to 2 visits depending on evaluation needs
Long-term Monitoring
Duration - Up to 30 years
Participants are followed over time to study the natural history of familial hypereosinophilia, identify immunologic and molecular mechanisms, and detect early markers of disease progression.
Periodic visits as scheduled over the study duration
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
T
Thomas W Brown, R.N.
A
Amy D Klion, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Dysregulation of interleukin 5 expression in familial eosinophilia.
S Prakash Babu, Y-Y K Chen, S Bonne-Annee...
https://pubmed.ncbi.nlm.nih.gov/28226398Familial eosinophilia: a benign disorder?
Amy D Klion, Melissa A Law, William Riemenschneider...
https://pubmed.ncbi.nlm.nih.gov/14988154