Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)
2 other identifiers
observational
700
1 country
1
Brief Summary
Background: \- Progressive multifocal leukoencephalopathy (PML) is a severe viral infection of the brain. It is caused by JC virus. Many people have this virus in their bodies all their life, but it is usually kept in check by their immune system. If the immune system does not work right because of a disease or medication, the virus becomes active and can damage cells in the brain. Not much is known about PML or how it affects the immune system. Researchers want to study people with PML to better understand the natural history of the disease. Objectives: \- To study the natural history of PML. Eligibility: \- Individuals at least 2 years of age who have PML. Design:
- Participants will be screened with a physical exam, medical history, and imaging studies.
- Participants will have several visits to the National Institutes of Health Clinical Center. There will be an initial visit, monthly visits for the next 6 months, a 12-month visit, and possible visits afterward.
- At the initial visit, participants will give blood, urine, and spinal fluid samples. They will also have neurological tests and imaging studies of the brain.
- For the next five visits, participants will give blood and urine samples. They will also have neurological tests and imaging studies of the brain.
- The 6-month and 12-month visits will repeat the tests from the initial visit.
- Other optional procedures include bone marrow samples and skin biopsies. Additional blood tests and imaging studies may be performed.
- Treatment will not be provided as part of this study.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
November 8, 2012
CompletedFirst Submitted
Initial submission to the registry
November 17, 2012
CompletedFirst Posted
Study publicly available on registry
November 21, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2052
ExpectedMay 5, 2026
April 30, 2026
39.2 years
November 17, 2012
May 2, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
To characterize the baseline presentation of patients with JCV infection and/or PML with regard to clinical, radiological, immunological, genetic and viral features.
1\. Characterization of distinctive imaging features to differentiate between actively progressing PML, PML-IRIS/inflammatory PML and inactive PML2. Characterization of distinctive clinical features to differentiate between actively progressing PML, PML-IRIS/inflammatory PML, and inactive PML3. Characterization of immune and virological features to differentiate between actively progressing PML, PML-IRIS/inflammatory PML, and inactive PML4. Characterization of immune and virological differences across PML patient populations with different underlying disease, subjects at risk for developing PML, and healthy individuals5. Characterization of genetic susceptibility for development of PML
one year following last enrollment
Secondary Outcomes (1)
To longitudinally follow patients with JCV infection and/or PML with thorough characterization of their clinical course, imaging correlates, immunological markers, and viral studies
one year following last enrollment
Study Arms (3)
Control Patients at Risk for PML
Participants with impaired immune function from any cause and considered at risk for PML
Healthy Volunteers
Healthy volunteers without impaired immune function
PML Patients
Participants with PML
Eligibility Criteria
Primary clinical for participants that have PML or at risk for PML and community sample/healthy relatives for healthy volunteers.
You may qualify if:
- Suspected or confirmed PML
- MRI compatible with PML
- Able to participate in the studies and follow-up required by the protocol
- At least 2 years old
You may not qualify if:
- Significant condition, which in the judgment of the principal investigator, would make participation in the diagnostic and research parts of evaluation impossible or risky
- Medical contraindication to MRI (i.e., devices such as a cardiac pacemaker or infusion pump, other metallic implants, metallic foreign objects, body piercings that cannot be removed)
- Pregnancy
- Inability to provide informed consent, either directly or via legally authorized representative (LAR)
- Unwillingness to consent for collection of biological samples or their cryopreservation
- Control Patients at Risk for PML
- Able to participate in the studies and follow-up required by the protocol
- At least 2 years old
- Impaired immune function from any cause and considered at risk for PML (i.e.-history of hematological malignancy, chronic inflammatory disease, history of treatment with immune suppressive or immunomodulatory therapies, primary or acquired immunodeficiency syndromes)
- Significant condition, which in the judgment of the principal investigator, would make participation in the diagnostic and research parts of evaluation impossible or risky
- Medical contraindication to MRI (i.e., devices such as a cardiac pacemaker or infusion pump, other metallic implants, metallic foreign objects, body piercings that cannot be removed)
- Pregnancy
- Inability to provide informed consent, either directly or via legally authorized representative (LAR)
- Unwillingness to consent for collection of biological samples or their cryopreservation
- Healthy Volunteers
- +8 more criteria
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (3)
Cinque P, Koralnik IJ, Gerevini S, Miro JM, Price RW. Progressive multifocal leukoencephalopathy in HIV-1 infection. Lancet Infect Dis. 2009 Oct;9(10):625-36. doi: 10.1016/S1473-3099(09)70226-9.
PMID: 19778765BACKGROUNDPadgett BL, Walker DL, ZuRhein GM, Eckroade RJ, Dessel BH. Cultivation of papova-like virus from human brain with progressive multifocal leucoencephalopathy. Lancet. 1971 Jun 19;1(7712):1257-60. doi: 10.1016/s0140-6736(71)91777-6. No abstract available.
PMID: 4104715BACKGROUNDGheuens S, Pierone G, Peeters P, Koralnik IJ. Progressive multifocal leukoencephalopathy in individuals with minimal or occult immunosuppression. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):247-54. doi: 10.1136/jnnp.2009.187666. Epub 2009 Oct 14.
PMID: 19828476BACKGROUND
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Irene CM Cortese, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 17, 2012
First Posted
November 21, 2012
Study Start
November 8, 2012
Primary Completion (Estimated)
January 1, 2052
Last Updated
May 5, 2026
Record last verified: 2026-04-30