NCT00032513Toboroz
Genetic Studies of Chronic Active Epstein-Barr Disease
Genetic Studies of Chronic Active Epstein-Barr Virus Infection
Forrás: ClinicalTrials.gov · Utoljára frissítve: 2026. nov. 3.
Rövid összefoglaló (regiszter, angolul)
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 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.
- Állapot (regiszter)
- Toboroz
- Vizsgálattípus
- Megfigyeléses
- Résztvevők száma
- 300 (tervezett)
- Első benyújtás
- 2002. márc. 22.
- Kezdés
- 2002. ápr. 16.
- Fő szponzor
- National Institute of Allergy and Infectious Diseases (NIAID)
- NCT-szám
- NCT00032513
Mit vállalsz
- Vizsgálat típusa: Megfigyeléses
- Tervezett résztvevők: 300
- 1 helyszín, 1 országban
- Vizitek és vizsgálatok: kérdezd a vizsgálat csapatát, a regiszter nem sorolja fel őket
A(z) ClinicalTrials.gov regisztermezőiből összeállítva. A vizsgálat felépítését írja le.
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Korábbi kezelés
- 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
Más betegség
- (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.
Életkor
- Age range: 3 years and above
- Age range: 18 years and above
Egyéb
- RELATIVES OF CAEBV PATIENTS:
- Study size: up to 150 relatives of CAEBV patients
- perform some of the studies listed on samples from normal relatives.
- UNRELATED VOLUNTEERS
- Study size: up to 300 persons
- 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.
A regiszterben nem jelölt feltételek
- 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:
- 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
- evidence of major organ involvement such as lymphadenitis, hemophagocytosis, meningoencephalitis, persistent hepatitis, splenomegaly, interstitial pneumonitis, bone marrow hypoplasia, uveitis AND
- detection of elevated levels of EBV DNA, RNA or proteins in affected tissues OR elevated levels of EBV DNA in the peripheral blood
Életkor a regiszterben: 1 év – 120 év · Nem: nők és férfiak · Egészséges önkénteseket nem fogad
Helyszínek (1)
Helyszínek a regiszter sorrendjében. Ha a profilodba mented a városodat, távolság szerint rendeződnek.
| Helyszín | Város | Ország | Helyszín állapota |
|---|---|---|---|
| National Institutes of Health Clinical Center Ennek a helyszínnek vagy a koordinátora? Erősítsd meg az állapotát | Bethesda | Egyesült Államok | Toboroz |
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