The Effects of Genetic Differences Among AIDS Patients on Cytomegalovirus Retinitis

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00341172
First received: June 19, 2006
Last updated: June 19, 2014
Last verified: June 2014
  Purpose

This study will evaluate the role of certain gene variants on the onset and course of cytomegalovirus (CMV) retinitis-a severe infection affecting the eye-in patients with AIDS. Symptoms include blurry vision, eye pain, photophobia, floaters, eye redness, and impaired vision. Left untreated, it can cause blindness. The study is done in collaboration with investigators of the Longitudinal Studies of the Ocular Complications of AIDS (LSOCA) at the Johns Hopkins University School of Medicine. The purpose of the LSOCA study is to learn about how HIV and other infections associated with AIDS and their treatments affect people's eyes and sight.

Blood samples previously collected from patients participating in the LSOCA study will be analyzed for gene variants. These differences will then be correlated with the patients' clinical data to try to discover the role of gene differences among patients on the following: susceptibility to CMV and related problems; development and course of CMV; and response to HAART (highly active antiretroviral treatment), particularly in CMV onset and pathology.

The study will use blood samples and clinical information previously collected from patients during their participation in LSOCA. The materials will be identified with a numerical code linking the samples and clinical data. No additional procedures will be performed on patients for this study.


Condition
AIDS

Study Type: Observational
Study Design: Time Perspective: Cross-Sectional
Official Title: Discovery of Genetic Variants Contributing to the Incidence or Course of CMV Disease in AIDS Patients

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Collection of 2500 samples [ Time Frame: Annually ] [ Designated as safety issue: No ]

Estimated Enrollment: 2500
Study Start Date: October 2004
Detailed Description:

Background:

LSOCA is a prospective observational study of ocular complications in HIV-infected AIDS patients including those treated with highly active anti-retroviral treatment (HAART).

In the absence of HAART, there is a 30% risk of cytomegalovirus (CMV0 infection associated with AIDS.

Of these CMV patients, 75-85% will develop retinitis.

Objectives:

Test a number of human candidate gene polymorphisms in the LSOCA cohort samples to discover genetic influences on the susceptibility to CMV and associated pathologies.

Inspect the role of known AIDS restriction genes (ARGs) on the infection and pathogenesis of CMV.

Evaluate the role of the same host gene polymorphisms on the response to HAART, particularly in CMV onset and pathology.

Eligibility:

Lymphocytes for DNA extraction and relevant clinical data from properly consented AIDS patients (maximum estimated at n= 2,000) will be provided to the LGD for genotyping and analysis. No available subjects will be excluded.

Design:

LSOCA has collected blood specimens and banked viably frozen lymphocytes from each study participant. Samples and clinical data are coded and linked.

Genes under study include the traditional described ARGs (O'Brien & Nelson, 2004); the CMV receptor gene, US28 (Pleskoff et al., 1997); HLA class I and II; KIR gene family and other genes involved in virus immune defenses.

Single nucleotide variants within coding regions, upstream and downstream regulatory regions, and ironic elements will be tested for genetic equilibrium distortion in patient populations at risk for CMV and displaying CMV pathology.

Following this study, the samples will be maintained in our repository and curated through our central Laboratory database. Loss or destruction of these samples will be recorded in our database and cannot impact the study participants in any way. We understand that studies subsequent to the completion of this protocol will require additional OHSR/IRB approval prior to commencement.

  Eligibility

Ages Eligible for Study:   13 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Lymphocytes for DNA and relevant clinical data from properly consented subjects will be provided to the LGD for genotyping and analysis. No available subjects will be excluded.

Diagnosis of AIDS according to the 1993 CDC diagnostic criteria (with or without clinical symptoms of CMV retinitis or other ocular complications of AIDS).

Age 13 years or older

Signed consent statement

For minors, ages 13-17, signed Consent Statement (by parent/guardian) and Assent Statement (by adolescent and parent/guardian).

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00341172

Locations
United States, Maryland
Johns Hopkins University
Baltimore, Maryland, United States, 21205
Sponsors and Collaborators
Investigators
Principal Investigator: Michael Dean, Ph.D. National Cancer Institute (NCI)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00341172     History of Changes
Other Study ID Numbers: 999905023, 05-C-N023
Study First Received: June 19, 2006
Last Updated: June 19, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Retinitis
Cytomegalovirus
HIV-1
Polymorphisms
HAART

Additional relevant MeSH terms:
Acquired Immunodeficiency Syndrome
Cytomegalovirus Retinitis
HIV Infections
Lentivirus Infections
Retroviridae Infections
RNA Virus Infections
Virus Diseases
Sexually Transmitted Diseases, Viral
Sexually Transmitted Diseases
Slow Virus Diseases
Immunologic Deficiency Syndromes
Immune System Diseases
Cytomegalovirus Infections
Herpesviridae Infections
DNA Virus Infections
Eye Infections, Viral
Eye Infections
Eye Diseases
Retinitis
Retinal Diseases

ClinicalTrials.gov processed this record on July 26, 2014