A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | 3 - 100 |
| Updated: | 1/17/2019 |
| Start Date: | September 15, 2004 |
| Contact: | Amy D Klion, M.D. |
| Email: | aklion@niaid.nih.gov |
| Phone: | (301) 435-8903 |
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.
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.
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.
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.
- 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
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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