NIH Clinical Center logo     America's Clinical Research Hospital File folder iconExplore the NIH
Clinical Center
Search the Studies - NIH Clinical Research Studies

Protocol Details

Genetic Studies of Chronic Active Epstein-Barr Virus Infection

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

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: 2
Max Age: N/A

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Herpesvirus;
Hemophagocytosis;
Lymphoproliferative;
Epstein-Barr;
Mononucleosis

Recruitment Keyword(s)

Epstein-Barr;
EBV;
CAEBV;
Chronic Active Epstein-Barr Virus;
Virus

Condition(s)

Epstein-Barr Virus Infections

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Allergy and Infectious Diseases

Epstein-Barr virus (EBV) is a member of the human herpes virus family that infects more than 95 percent of the U.S. population. Most infections occur in childhood and cause no symptoms; in adolescents and adults, EBV often causes infectious mononucleosis. It has also been associated with certain forms of cancer. Chronic Epstein-Barr virus (CAEBV) is a rare disease, primarily of children and young adults, that leads to life-threatening infections.

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 2 and above) with CAEBV and up to 150 of their relatives (age 2 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.

--Back to Top--

Eligibility

ELIGIBILITY CRITERIA

CAEBV PATIENTS

Study size: up to 150 patients

Sex distribution: male and female

Age range:no minimum nor maximum age

Patients known to have 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.

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 at least 6 months ago as a primary EBV infection, or associated with markedly elevated EBV-specific antibody titers (IgG-VCA greater than or equal to 1:5,120; EA greater than or equal to 1:640 or EBNA less than 1:2 with other serologies positive) 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 AND

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: 2 years and above

To determine the genetic basis for this syndrome, the evaluation of blood and 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 studies on blood 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.


--Back to Top--

Citations:

Cohen JI Epstein-Barr virus infection N Engl J Med 2000 Aug 17;343(7):481-92

Schooley RT, Carey RW, Miller G, Henle W, Eastman R, Mark EJ, Kenyon K,Wheeler EO, Rubin RH Chronic Epstein-Barr virus infection associated with fever and interstitialpneumonitis Clinical and serologic features and response to antiviral chemotherapyAnn In

Straus SE The chronic mononucleosis syndrome J Infect Dis 1988 Mar;157(3):405-12

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Jeffrey I. Cohen, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)


jcohen@niaid.nih.gov

Siu-Ping Turk, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 12C103
10 Center Drive
Bethesda, Maryland 20892
(301) 451-7661
sturk@cc.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00032513

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

  • Details on how to participate in a study
  • Details on how to refer a patient to a study

NIH Clinical Studies Information Request


Contact the Office of Communications for:

  • General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml


Contact the Department Clinical Research Informatics, (DCRI) for:

  • Technical questions about Adobe Acrobat and the PDF format
  • Technical questions about this web server

webmaster@cc.nih.gov