EosinophiliaNCT00091871
A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
An observational study of Eosinophilia and Hypereosinophilic Syndrome, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 1 year to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Eosinophilia, Hypereosinophilic Syndrome
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Jun 2005to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Affected family members from the previously identified family with FE, as well as affected member of newly identified families with FE and unaffected family members from known families with FE, may enroll.
Who may be able to join
- 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.
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
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.
Read the detailed description
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
- Conditions
- Eosinophilia, Hypereosinophilic Syndrome
- Keywords
- Hypereosinophilia, Eosinophil, Familial, Interleukin 5, Natural History, Familial Hypereosinophilia, FE
- Medical subject headings
- Eosinophilia, Hypereosinophilic Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected family members | Family members with peripheral blood eosinophilia | |
| Unaffected family members | Family members without peripheral blood eosinophilia |
What is being measured
The primary outcome is the main question the study is designed to answer.
To study the natural history of familial hypereosinophilia (FE)
Development of eosinophilic end organ manifestations
Measured: 30 years
Secondary outcomes (2)
To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis of FE
Description of immunologic features of FE; identification of genetic driver(s) of FE
Measured: 30 years
To identify early clinical or laboratory markers of disease progression
Identification of clinical or laboratory markers that become abnormal prior to disease progression in FE
Measured: 30 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2004 (estimated)
- Study start8 Jun 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for EosinophiliaStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Amy D Klion, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00091871
- Sponsor's protocol ID
- 040286
- Other IDs
- 04-I-0286
- Status last verified
- 17 Apr 2026
- First submitted
- 17 Sep 2004
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: This is a longitudinal observational study in a rare inherited disease. At this point in time, there is no plan to share individual participant data as the main outcomes of the study are based on group data (incidence of end organ manifestations in the group) and identification of genetic and immunologic drivers of familial eosinophilia.
Publications
Rioux JD, Stone VA, Daly MJ, Cargill M, Green T, Nguyen H, Nutman T, Zimmerman PA, Tucker MA, Hudson T, Goldstein AM, Lander E, Lin AY. Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet. 1998 Oct;63(4):1086-94. doi: 10.1086/302053.
PubMed 9758611Prakash Babu S, Chen YK, Bonne-Annee S, Yang J, Maric I, Myers TG, Nutman TB, Klion AD. Dysregulation of interleukin 5 expression in familial eosinophilia. Allergy. 2017 Sep;72(9):1338-1345. doi: 10.1111/all.13146. Epub 2017 Apr 18.
PubMed 28226398Klion AD, Law MA, Riemenschneider W, McMaster ML, Brown MR, Horne M, Karp B, Robinson M, Sachdev V, Tucker E, Turner M, Nutman TB. Familial eosinophilia: a benign disorder? Blood. 2004 Jun 1;103(11):4050-5. doi: 10.1182/blood-2003-11-3850. Epub 2004 Feb 26.
PubMed 14988154
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression
- ClinicalTrials.gov ID
- NCT00091871
- Acronym / sponsor ID
- 040286
- Conditions
- Eosinophilia, Hypereosinophilic Syndrome
- Keywords
- Hypereosinophilia, Eosinophil, Familial, Interleukin 5, Natural History, Familial Hypereosinophilia, FE
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 8 Jun 2005 (actual)
- First posted
- 20 Sep 2004 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected family members | – | –Family members with peripheral blood eosinophilia |
| Unaffected family members | – | –Family members without peripheral blood eosinophilia |
Who may qualify
- Ages
- 1 year to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Affected family members from the previously identified family with FE, as well as affected member of newly identified families with FE and unaffected family members from known families with FE, may enroll.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (3 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To study the natural history of familial hypereosinophilia (FE)
Time frame: 30 years
Development of eosinophilic end organ manifestations
2 secondary outcomes
To determine the immunologic and molecular mechanisms responsible for eosinophilia, eosinophil activation, and pathogenesis of FE
Time frame: 30 years
To identify early clinical or laboratory markers of disease progression
Time frame: 30 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 9758611Rioux JD, Stone VA, Daly MJ, Cargill M, Green T, Nguyen H, Nutman T, Zimmerman PA, Tucker MA, Hudson T, Goldstein AM, Lander E, Lin AY. Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet. 1998 Oct;63(4):1086-94. doi: 10.1086/302053.
- Background: PubMed 28226398Prakash Babu S, Chen YK, Bonne-Annee S, Yang J, Maric I, Myers TG, Nutman TB, Klion AD. Dysregulation of interleukin 5 expression in familial eosinophilia. Allergy. 2017 Sep;72(9):1338-1345. doi: 10.1111/all.13146. Epub 2017 Apr 18.
- Background: PubMed 14988154Klion AD, Law MA, Riemenschneider W, McMaster ML, Brown MR, Horne M, Karp B, Robinson M, Sachdev V, Tucker E, Turner M, Nutman TB. Familial eosinophilia: a benign disorder? Blood. 2004 Jun 1;103(11):4050-5. doi: 10.1182/blood-2003-11-3850. Epub 2004 Feb 26.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. This is a longitudinal observational study in a rare inherited disease. At this point in time, there is no plan to share individual participant data as the main outcomes of the study are based on group data (incidence of end organ manifestations in the group) and identification of genetic and immunologic drivers of familial eosinophilia.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Amy D Klion, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Eosinophilia and Hypereosinophilic Syndrome, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Thomas W Brown, R.N. ((301) 402-7823, browntw@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To study the natural history of familial hypereosinophilia (FE) (time frame: 30 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00091871, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.