Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)
| Status: | Recruiting |
|---|---|
| Conditions: | HIV / AIDS, Neurology, Multiple Sclerosis |
| Therapuetic Areas: | Immunology / Infectious Diseases, Neurology, Other |
| Healthy: | No |
| Age Range: | 2 - Any |
| Updated: | 2/6/2019 |
| Start Date: | November 17, 2012 |
| End Date: | December 31, 2021 |
| Contact: | Avindra Nath, M.D. |
| Email: | natha@mail.nih.gov |
| Phone: | (301) 496-1561 |
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.
- 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.
The objective of this study is to examine the natural course of 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 and cerebrospinal fluid (CSF) 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.
Specifically, this detailed characterization will be used to help identify:
1. Clinical and/or imaging features pathognomonic of PML that may aid in earlier diagnosis
and intervention
2. Clinical imaging and/or laboratory features of the disease course that is 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; this data and biological bank will be made available to outside laboratories.
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 and cerebrospinal fluid (CSF) 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.
Specifically, this detailed characterization will be used to help identify:
1. Clinical and/or imaging features pathognomonic of PML that may aid in earlier diagnosis
and intervention
2. Clinical imaging and/or laboratory features of the disease course that is 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; this data and biological bank will be made available to outside laboratories.
- 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 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 appointed power of
attorney
5. Unwillingness to consent for collection of biological samples or their
cryopreservation
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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