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RecruitingNCT01730131Updated Oct 29, 2026

Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)

An observational study in Progressive Multifocal Leukoencephalopathy, sponsored by National Institute of Neurological Disorders and Stroke (NINDS). Recruiting at 1 site in United States. Open to participants aged 2 Years to 120 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-29.

Sponsored by National Institute of Neurological Disorders and Stroke (NINDS) · Observational

From the registry’s dates

  • Started Nov 2012; still recruiting 14 years later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
700
Ages
2 Years to 120 Years
Sex
All
01

Study 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.
Read the detailed description

The objective of this study is to examine the risk factors and natural course of JCV infection and progressive multifocal leukoencephalopathy (PML). PML is a devastating, demyelinating neurological disease affecting the brain of patients with a compromised immune system. It is caused by reactivation of JC virus (JCV), a small DNA virus that infects the majority of the population without clinical significance. There are currently no treatments available for PML.

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.

02

Conditions studied

  • Progressive Multifocal Leukoencephalopathy

Keywords

  • Encephalitis
  • Immune Reconstitution Syndrome
  • Human Immunodeficiency Virus
  • Multiple Sclerosis
  • Natural History
03

In context

Leukoencephalopathy, Progressive Multifocal

29 studies on the registry are indexed under Leukoencephalopathy, Progressive Multifocal; 7 are open to participants now.

This study's planned enrollment of 700 is above the median of 96 across 12 observational studies indexed under Leukoencephalopathy, Progressive Multifocal.

Browse Leukoencephalopathy, Progressive Multifocal studies →

Lead sponsor

National Institute of Neurological Disorders and Stroke (NINDS) is the lead sponsor of 601 studies on the registry; 56 are open to participants now.

Of its 18 completed or terminated interventional studies of FDA-regulated products, 8 (44%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
2 Years to 120 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Probability sample

Study population

Primary clinical for participants that have PML or at risk for PML and community sample/healthy relatives for healthy volunteers.

Eligibility criteria

  • PML Patients

INCLUSION CRITERIA:

  1. Suspected or confirmed PML
  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:

  1. Significant condition, which in the judgment of the principal investigator, would make participation in the diagnostic and research parts of evaluation impossible or risky
  2. Medical 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 , either directly or via legally authorized representative (LAR)
  5. Unwillingness to consent for collection of biological samples or their cryopreservation

Control Patients at Risk for PML

INCLUSION CRITERIA:

  1. Able to participate in the studies and follow-up required by the protocol
  2. At least 2 years old
  3. Impaired immune function from any cause and considered at risk for PML (i.e.-history of hematological , chronic inflammatory disease, history of treatment with immune suppressive or immunomodulatory therapies, primary or acquired immunodeficiency syndromes)

EXCLUSION CRITERIA:

  1. Significant condition, which in the judgment of the principal investigator, would make participation in the diagnostic and research parts of evaluation impossible or risky
  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

Healthy Volunteers

INCLUSION CRITERIA:

  1. Able to participate in the studies and follow-up required by the protocol
  2. At least 18 years old

EXCLUSION CRITERIA:

  1. Impaired immune function (i.e.-history of hematological malignancy, chronic inflammatory disease, history of treatment with immune suppressive or immunomodulatory therapies, primary or acquired immunodeficiency syndromes)
  2. Significant condition, which in the judgment of the principal investigator, would make participation in the diagnostic and research parts of evaluation impossible or risky
  3. 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)
  4. Pregnancy
  5. Inability to provide informed consent, either directly or via legally authorized representative (LAR)
  6. Unwillingness to consent for collection of biological samples or their cryopreservation
Terms in these criteria, in plain language(3)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Contraindication

A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Cancer (malignancy)

Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.

Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
700 participants (estimated)

Groups and cohorts

  • 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

06

What researchers measure

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

    Time frame: 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

    1\. Temporal correlation between clinical course and imaging and/or laboratory measures2. To identify biomarkers that can predict long-term outcome and response to treatment interventions3. To develop a clinically relevant assessment scale for PML that identifies milestones of disease progression4. To develop a repository of cryopreserved biological samples that will be used for validation of candidate biomarkers in future studies5. To characterize the immune profile in blood and CSF of patients with PML6. To determine the eligibility of PML patients for participation in other studies7. To screen and evaluate healthy subjects as donors for manufacture of virus-specific T cells (to be administered to patients under separate, dedicated protocol); to collect PBMC for the purpose of manufacture of virus-specific T cells, which will be stored in a bank and can be used for any appropriately HLA-matched recipient

    Time frame: one year following last enrollment

07

Study locations

1 of 1 sites recruiting
  • National Institutes of Health Clinical Center
    Bethesda, Maryland 20892, United States
    Recruiting
    • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · Contactccopr@nih.gov · 800-411-1222
08

References and documents

Publications

  • 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. PubMed 19778765 ↗
  • 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. PubMed 4104715 ↗
  • 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. PubMed 19828476 ↗
09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Nov 2012 (actual). Primary completion is estimated for Jan 2052, 469 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Nov 17, 2012
First posted
Nov 21, 2012
StartActual
Nov 8, 2012
Primary completionEst.
Jan 1, 2052
Last update
Oct 29, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Oct 29, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01730131
Responsible party
Sponsor
First posted
Nov 21, 2012
Start date
Nov 8, 2012
Primary completion
Jan 1, 2052 (estimated)
Last update
Oct 29, 2026

Study contacts

Mauricio A Campillay
Contact
mauricio.campillay@nih.gov
(301) 496-3825
Irene CM Cortese, M.D.
Contact
corteseir@ninds.nih.gov
(301) 496-1801
Irene CM Cortese, M.D.
principal investigator · National Institute of Neurological Disorders and Stroke (NINDS)

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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