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

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Brief Title

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

Official Title

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

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

      Affected members of families with familial hypereosinophilia (FE) will be admitted on this
      protocol. A thorough clinical evaluation will be performed biyearly 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 patients 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. Family
      members of affected family members may also be enrolled and provide research specimens on
      this protocol to help determine the underlying genetic causes of FE.
    


Study Type

Observational


Primary Outcome

To study the natural history of familial hypereosinophilia


Condition

Eosinophilia


Study Arms / Comparison Groups

 Affected family members
Description:  Family members with peripheral blood eosinophilia

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

50

Start Date

June 8, 2005



Eligibility Criteria

        -  INCLUSION CRITERIA (AFFECTED FAMILY MEMBERS):

               1. 3-100 years of age

               2. genetically related member of a previously identified family with FE

               3. documented eosinophilia greater than 1,500/mm(3) on at least two occasions

        EXCLUSION CRITERIA (AFFECTED FAMILY MEMBERS):

          1. an alternative explanation for eosinophilia greater than 1,500/mm(3) (ex.
             hypersensitivity reaction, parasitic infection)

          2. Women who are pregnant or breastfeeding

        INCLUSION CRITERIA (UNAFFECTED FAMILY MEMBERS):

          1. 3-100 years of age

          2. extended family member of a study participant in 04-I-0286

        EXCLUSION CRITERIA (UNAFFECTED FAMILY MEMBERS):

          1. any condition that the investigator feels put the subject at unacceptable risk for
             participation in the study

          2. Women who are pregnant or breastfeeding
      

Gender

All

Ages

3 Years - 100 Years

Accepts Healthy Volunteers

No

Contacts

Amy D Klion, M.D., (301) 435-8903, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00091871

Organization ID

040286

Secondary IDs

04-I-0286

Responsible Party

Sponsor

Study Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)


Study Sponsor

Amy D Klion, M.D., Principal Investigator, National Institute of Allergy and Infectious Diseases (NIAID)


Verification Date

September 24, 2019