Genetics of Progressive Multifocal Leukoencephalopathy and Acquired Immunodeficiency Syndrome

This study has been completed.
Multicenter AIDS Cohort Study (MACS)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: June 19, 2006
Last updated: March 16, 2009
Last verified: June 2006

This study will identify genetic factors associated with the development of progressive multifocal leukoencephalopathy (PML) in patients with acquired immunodeficiency syndrome (AIDS). PML is a life-threatening infection of the brain that affects about 5 percent of untreated patients with AIDS. Its symptoms include mental deterioration, vision loss, speech disturbances, ataxia (inability to coordinate movements), paralysis, and coma. PML is caused by a polyomavirus called the JC virus.

It is estimated that up to 80 percent of the human population has been exposed to the JC virus, but the disease is very rare. The virus only becomes active in people who have compromised immune systems, such as those undergoing immune suppressive chemotherapy for cancer and those with damaged immune systems due to HIV.

Patients who have participated in the Multicenter AIDS Cohort Study may be eligible for this study, as well as healthy normal volunteers who will serve as controls. The study will review clinical information from patients and analyze genetic factors from both patients and control subjects to investigate genes associated with AIDS and JC virus infection.


Study Type: Observational
Official Title: Influence of Host Genetic Factors in Development of PML in an AIDS Cohort

Resource links provided by NLM:

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

Estimated Enrollment: 450
Study Start Date: August 2005
Detailed Description:
The purpose of this study is to identify host genetic factors that contribute to the development of Progressive Multifocal Leukoencephalopathy (PML) associated with JC virus. JC virus is one of many opportunistic infections that arise in AIDS patients. JC virus is widely distributed in the general population, with estimates of population exposure ranging from 30-80%. JC virus remains latent in the host, and in profoundly immunosuppressed patients, JC virus can cause PML, a fatal disease associated with neurotropic JC virus that lytically infects oligodendrocytes. In untreated AIDS populations, the frequency of PML has been estimated at roughly 5%. This study will identify host genetic factors that may contribute to the development of PML in the AIDS population.

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
  • No available subjects will be excluded.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00342602

United States, California
University of California, Los Angeles
Los Angeles, California, United States, 90095
United States, Illinois
Northwestern University
Chicago, Illinois, United States, 60611
John H. Stroger, Jr. Hospital of Cook County
Chicago, Illinois, United States, 60612
Howard Brown Health Center
Chicago, Illinois, United States, 60613
United States, Maryland
Johns Hopskins Hospital
Baltimore, Maryland, United States, 21205
United States, Pennsylvania
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15261
Sponsors and Collaborators
National Cancer Institute (NCI)
Multicenter AIDS Cohort Study (MACS)
  More Information

Publications: Identifier: NCT00342602     History of Changes
Other Study ID Numbers: 999905218  05-C-N218 
Study First Received: June 19, 2006
Last Updated: March 16, 2009
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
JC Virus
Opportunistic Infection
Single Nucleotide Polymorphism

Additional relevant MeSH terms:
Acquired Immunodeficiency Syndrome
HIV Infections
Leukoencephalopathy, Progressive Multifocal
Brain Diseases
Central Nervous System Diseases
Central Nervous System Infections
Central Nervous System Viral Diseases
DNA Virus Infections
Demyelinating Diseases
Encephalitis, Viral
Immune System Diseases
Immunologic Deficiency Syndromes
Infectious Encephalitis
Lentivirus Infections
Nervous System Diseases
Polyomavirus Infections
RNA Virus Infections
Retroviridae Infections
Sexually Transmitted Diseases
Sexually Transmitted Diseases, Viral
Slow Virus Diseases
Virus Diseases processed this record on May 26, 2016