We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

This study is currently recruiting participants.
Verified November 7, 2017 by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT00091871
First Posted: September 20, 2004
Last Update Posted: November 15, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
  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
Familial Hypereosinophilia

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):

Primary Outcome Measures:
  • To study the natural history of familial hypereosinophilia (FE) [ Time Frame: Throughout the course of the study ]
  • To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis in FE [ Time Frame: Throughout the course of the study ]
  • To identify early clinical or laboratory markers of disease progression in FE [ Time Frame: Throughout the course of the study ]

Estimated Enrollment: 50
Study Start Date: September 15, 2004
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.
  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA (Familial Hypereosinophilia Subjects):
  • genetically related member of a 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)

INCLUSION AND EXCLUSION CRITERIA (Relatives)

INCLUSION CRITERIA:

  1. 1-100 years of age
  2. extended family member of a study participant in 04-I-0286

EXCLUSION CRITERIA:

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

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
National Institute of Allergy and Infectious Diseases (NIAID)
Investigators
Principal Investigator: Amy D Klion, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT00091871     History of Changes
Other Study ID Numbers: 040286
04-I-0286
First Submitted: September 17, 2004
First Posted: September 20, 2004
Last Update Posted: November 15, 2017
Last Verified: November 7, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
Genetic
Eosinophils
Familial Hypereosinophilia
Hypereosinophilia
FE

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