This study is currently recruiting participants.
Number
02-I-0147
Sponsoring Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Years Max Age: 120 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Herpes; Hemophagocytosis; Epstein-Barr Virus; Lymphoproliferative Disease; Mononucleosis; Natural History
Recruitment Keyword(s)
Epstein-Barr; EBV; CAEBV; Chronic Active Epstein-Barr Virus; Virus
Condition(s)
Chronic Active Epstein-Barr Virus
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Allergy and Infectious Diseases
This study seeks to identify genetic mutations responsible for CAEBV. A secondary goal is to learn more about the natural history of CAEBV.
The study will examine blood and tissue samples from up to 50 patients (age 3 and above) with CAEBV and up to 150 of their relatives (age 1 and above). Autopsy samples may be included in the study. Up to 300 anonymous blood samples from the NIH Clinical Center Blood Transfusion Medicine will also be examined for comparison.
No more than 450 milligrams (30 tablespoons) of blood per 8 weeks will be drawn from adult patients, and no more than 7 milliliters per kilogram of blood per 8 weeks will be drawn from patients under age 18. Local health care providers will refer patients to the study and will obtain the samples. Some patients may also be seen at the NIH Clinical Center. Those patients will have a full medical history and physical examination, along with chest X-ray, blood counts, blood chemistry, EBV serologies, and viral load. Other tests, such as CT scan or MRI, may be performed if medically indicated. Patients will be asked to undergo leukapheresis.
In vitro tests on the blood or tissue samples will include analysis for proteins or genes that are involved in the immune response; cloning of portions of patient DNA; transformation of B cells with EBV; measurement of the ability of patient blood cells to kill EBV-infected cells; determination of lymphocyte subsets; and determination of antibodies to EBV or other herpes viruses.
If a genetic cause for CAEBV is found, the investigators will be available to discuss the results with patients in person or by telephone. Genetic indications of risk for other diseases will also be discussed with patients.
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ELIGIBILITY CRITERIA CAEBV PATIENTS Study size: up to 150 patients Sex distribution: male and female Age range: 1 year old and above Patients with known or suspected CAEBV and their relatives will be recruited by referrals from health care providers. The rarity of this disease will markedly limit the number of patients available to study; therefore, we will enroll patients who are 1 year of age and older. However, children under the age of 3 years old will be enrolled as samples- only participants and not be evaluated at the Clinical Center. Patient recruitment is irrespective of racial and ethnic group or gender. NIAID investigators will be available to answer questions and discuss general aspects of CAEBV and identified genes or modifier genes with participants or their providers. Eligibility criteria: To be considered having CAEBV, a patient must have: (a) a severe progressive illness that began as a primary EBV infection, or associated with postive EBV-specific antibody titers (IgG-VCA, ; EA or EBNA) not otherwise explained AND (b) evidence of major organ involvement such as lymphadenitis, hemophagocytosis, meningoencephalitis, persistent hepatitis, splenomegaly, interstitial pneumonitis, bone marrow hypoplasia, uveitis AND (c) detection of elevated levels of EBV DNA, RNA or proteins in affected tissues OR elevated levels of EBV DNA in the peripheral blood Exclusion Criteria: (a) Any other condition that, in the opinion of the investigator, would make the patient unsuitable for enrollment or could interfere with the patient participating in the study. RELATIVES OF CAEBV PATIENTS: Study size: up to 150 relatives of CAEBV patients Age range: 3 years and above To determine the genetic basis for this syndrome, the evaluation of blood, saliva and/or previously obtained tissue specimens from healthy relatives of CAEBV patients will serve as controls. No tissue biopsies will be performed on healthy relatives. We will perform some of the studies listed on samples from normal relatives. UNRELATED VOLUNTEERS Study size: up to 300 persons Age range: 18 years and above Panels of anonymous blood samples will be obtained through NIH Clinical Center Blood Transfusion Medicine to determine if identified genetic changes are mutations or polymorphisms.
CAEBV PATIENTS
Study size: up to 150 patients
Sex distribution: male and female
Age range: 1 year old and above
Patients with known or suspected CAEBV and their relatives will be recruited by referrals from health care providers. The rarity of this disease will markedly limit the number of patients available to study; therefore, we will enroll patients who are 1 year of age and older. However, children under the age of 3 years old will be enrolled as samples- only participants and not be evaluated at the Clinical Center.
Patient recruitment is irrespective of racial and ethnic group or gender. NIAID investigators will be available to answer questions and discuss general aspects of CAEBV and identified genes or modifier genes with participants or their providers.
Eligibility criteria: To be considered having CAEBV, a patient must have:
(a) a severe progressive illness that began as a primary EBV infection, or associated with postive EBV-specific antibody titers (IgG-VCA, ; EA or EBNA) not otherwise explained AND
(b) evidence of major organ involvement such as lymphadenitis, hemophagocytosis, meningoencephalitis, persistent hepatitis, splenomegaly, interstitial pneumonitis, bone marrow hypoplasia, uveitis AND
(c) detection of elevated levels of EBV DNA, RNA or proteins in affected tissues OR elevated levels of EBV DNA in the peripheral blood
Exclusion Criteria:
(a) Any other condition that, in the opinion of the investigator, would make the patient unsuitable for enrollment or could interfere with the patient participating in the study.
RELATIVES OF CAEBV PATIENTS:
Study size: up to 150 relatives of CAEBV patients
Age range: 3 years and above
To determine the genetic basis for this syndrome, the evaluation of blood, saliva and/or previously obtained tissue specimens from healthy relatives of CAEBV patients will serve as controls. No tissue biopsies will be performed on healthy relatives. We will
perform some of the studies listed on samples from normal relatives.
UNRELATED VOLUNTEERS
Study size: up to 300 persons
Age range: 18 years and above
Panels of anonymous blood samples will be obtained through NIH Clinical Center Blood Transfusion Medicine to determine if identified genetic changes are mutations or polymorphisms.
Principal Investigator
Referral Contact
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