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

This study is currently recruiting participants.
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00091871
First received: September 17, 2004
Last updated: March 14, 2014
Last verified: January 2014
  Purpose

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 20 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.


Condition
Eosinophilia

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

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 20
Study Start Date: September 2004
Detailed Description:

Affected members of a previously studied family 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 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:
  • genetically related member of the previously identified family with FE
  • documented eosinophilia greater than 1,500/mm(3) on at least two occasions

EXCLUSION CRITERIA:

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

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00091871

Contacts
Contact: Amy D Klion, M.D. (301) 435-8903 aklion@niaid.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Amy D Klion, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00091871     History of Changes
Other Study ID Numbers: 040286, 04-I-0286
Study First Received: September 17, 2004
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Genetic
Eosinophils
Hypereosinophilia
Familial Hypereosinophilia
FE

Additional relevant MeSH terms:
Eosinophilia
Disease Progression
Leukocyte Disorders
Hematologic Diseases
Disease Attributes
Pathologic Processes

ClinicalTrials.gov processed this record on April 17, 2014