Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)
NCT ID: NCT01730131
Last Updated: 2025-12-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
700 participants
OBSERVATIONAL
2012-11-08
Brief Summary
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\- 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.
Detailed Description
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We plan to study patients with suspected or confirmed PML with different underlying conditions including patients on immune-modulatory therapies for multiple sclerosis (MS), rheumatologic diseases or other autoimmune diseases, as well as patients with HIV infection or other conditions leading to a compromised immune system. Patients will be seen at defined time points during their disease course and detailed assessments will be performed to collect clinical and imaging data. Blood, cerebrospinal fluid (CSF) and urine will also be collected at these time points to evaluate the behavior and biology of the JCV and the patients immune responses to the infection. These tests will lead to a better understanding of the pathophysiology of PML and the course of this disease in different patient groups. Additionally, we will recruit a patient control cohort represented by patients with impaired immune function for any cause and considered at risk for development of PML, and a healthy volunteer cohort. The purpose of these additional cohorts is to explore and validate biomarkers for risk of development of PML and early diagnosis. Additionally, the healthy volunteer cohort may be screened and evaluated as possible donors of peripheral blood mononuclear cells (PBMC) for manufacture of virus-specific T cells.
The detailed characterization described above will be used to help identify:
1. Clinical, imaging, and/or laboratory features pathognomonic of JCV infection and disease course that may aid in earlier diagnosis and appropriate intervention
2. Clinical, imaging, and/or laboratory features of JCV infection and disease course that are predictive of clinical outcomes
This information will be integrated to develop a clinically relevant, disease-specific assessment scale of PML, which is currently not available. Such a scale would be a useful tool for the clinical management of patients (i.e., for development of standards of care), as well as for clinical trial design and interpretation.
The long-term objectives of this study are to improve the understanding of the disease course and underlying pathophysiology, to identify subgroups with different prognosis and/or susceptibility to interventions, and to help identify therapeutic targets and/or intervention strategies. Equally important, these efforts will allow development of a repository of cryopreserved biological samples that will be used for validation of candidate biomarkers in future studies.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Control Patients at Risk for PML
Participants with impaired immune function from any cause and considered at risk for PML
No interventions assigned to this group
Healthy Volunteers
Healthy volunteers without impaired immune function
No interventions assigned to this group
PML Patients
Participants with PML
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. MRI compatible with PML
3. Able to participate in the studies and follow-up required by the protocol
4. At least 2 years old
Exclusion Criteria
2. 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)
3. Pregnancy
4. Inability to provide informed consent, either directly or via legally authorized representative (LAR)
5. Unwillingness to consent for collection of biological samples or their cryopreservation
2 Years
120 Years
ALL
Yes
Sponsors
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National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Responsible Party
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Principal Investigators
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Irene CM Cortese, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Institute of Neurological Disorders and Stroke (NINDS)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
References
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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.
Padgett 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.
Gheuens 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.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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13-N-0017
Identifier Type: -
Identifier Source: secondary_id
130017
Identifier Type: -
Identifier Source: org_study_id