Genetic analysis of Chronic Active Epstein-Barr Virus

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on identifying genetic mutations associated with Chronic Active Epstein-Barr Virus (CAEBV), a rare and severe condition primarily affecting children and young adults. It will analyze blood and tissue samples from up to 50 CAEBV patients and their relatives, as well as additional anonymous blood samples for comparison. The study aims to enhance understanding of the disease's natural history and the immunologic control of EBV infections. Participants will undergo evaluations and medically indicated studies at the NIH Clinical Center.

Why it matters

Who can join: the full rules

* 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 sex. 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:

1. a severe progressive illness that began as a primary EBV infection, or associated with positive EBV-specific antibody titers (IgG-VCA, ; EA or EBNA) not otherwise explained AND
2. evidence of major organ involvement such as lymphadenitis, hemophagocytosis, meningoencephalitis, persistent hepatitis, splenomegaly, interstitial pneumonitis, bone marrow hypoplasia, uveitis AND
3. 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Jeffrey I Cohen, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Jeffrey I Cohen, M.D.
• Email: jcohen@niaid.nih.gov
• Phone: (301) 496-5265

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.