Clinical Trials


Genetics of Progressive Multifocal Leukoencephalopathy and Acquired Immunodeficiency Syndrome

This study has been completed
National Cancer Institute (NCI)

Multicenter AIDS Cohort Study (MACS)

Information provided by (Responsible Party)
National Institutes of Health Clinical Center (CC) Identifier

First received: June 19, 2006
Last updated: March 16, 2009
Last Verified: June 2006
History of Changes


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

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

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.



Ages Eligible for Study: Child, Adult, Senior  
Sexes Eligible for Study: All  
Accepts Healthy Volunteers: Yes  


  • No available subjects will be excluded.

contacts and locations

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

More Information

Responsible Party: National Cancer Institute (NCI) Identifier: NCT00342602   History of Changes  
Other Study ID Numbers: 999905218  
Study First Received: June 19, 2006  
Last Updated: March 16, 2009  

Keywords provided by National Institutes of Health Clinical Center (CC):

JC Virus
Opportunistic Infection
Single Nucleotide Polymorphism
Sequencing processed this data on May 24, 2020
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