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

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:

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

• Identification of clinical or laboratory markers that become abnormal prior to disease progression in FE

• INCLUSION CRITERIA:

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.

Exclusion criteria

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)