A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
- Conditions
- Hypereosinophilic SyndromeEosinophilia
- Registration Number
- NCT00091871
- 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.
- Detailed Description
Study Description:
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
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 50
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To study the natural history of familial hypereosinophilia (FE) 30 years Development of eosinophilic end organ manifestations
- Secondary Outcome Measures
Name Time Method To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis of FE 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 30 year Identification of clinical or laboratory markers that become abnormal prior to disease progression in FE
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States