The Effects of Genetic Differences Among AIDS Patients on Cytomegalovirus Retinitis
| Status: | Completed |
|---|---|
| Conditions: | HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | 13 - 100 |
| Updated: | 4/6/2019 |
| Start Date: | November 1, 2004 |
Discovery of Genetic Variants Contributing to the Incidence or Course of CMV Disease in AIDS Patients
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.
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.
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.
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.
- 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).
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