- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05124392
Biomarker Profiling in Individuals at Risk for Prion Disease
Study Overview
Status
Detailed Description
This study aims to measure biomarkers longitudinally in individuals at risk of developing genetic prion disease to identify clinical assays and molecular markers that: can inform our understanding of pre-clinical pathology, predict timing of disease onset in pre-symptomatic individuals, and enable development and evaluation of novel treatment efficacy in pre-symptomatic or early symptomatic individuals.
Participation in the study involves annual visits to the clinic site in Charlestown, MA. Study visits include: a medical exam, blood draws, cognitive tests and questionnaires, spinal fluid collection, and (optional) MRI.
Travel support and stipend is provided for interested individuals.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Ashley Kupferschmid
- Phone Number: 617 726 4026
- Email: AKUPFERSCHMID@mgh.harvard.edu
Study Contact Backup
- Name: Jess Gerber
- Email: jgerber2@mgh.harvard.edu
Study Locations
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Massachusetts
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Charlestown, Massachusetts, United States, 02129
- Recruiting
- Alzheimer's Clinical and Translational Research Unit
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Contact:
- Jessica Gerber
- Phone Number: 617-724-1992
- Email: jgerber2@mgh.harvard.edu
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Principal Investigator:
- Steven E Arnold, MD
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Aged 18 - 85,
One of the following:
- Known carrier of pathogenic PRNP mutation
- History of probable or definite prion disease in biological parent and other family members
- Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
- Adequate visual and auditory acuity to complete cognitive testing,
- Fluent in English,
- At least 5 years of education,
- Capable of providing informed consent and following study procedures.
Exclusion Criteria:
- Any CNS disease other than asymptomatic or early prion disease, such as clinical stroke, brain tumor, multiple sclerosis, significant head trauma with persistent neurological or neurocognitive deficits, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration or other known neurodegenerative disease,
- History of alcohol or other substance abuse or dependence within the past two years,
- Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,
- Coagulopathy or anti-coagulant therapy (such as Coumadin) increasing the risk for phlebotomy or lumbar puncture resulting in PT/PTT and INR within 1.5 standard deviation over the upper normal limit.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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Individuals with a family history of Prion disease
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
CSF YKL40
Time Frame: 1 year
|
Levels of YKL40
|
1 year
|
CSF Tau
Time Frame: 1 year
|
Levels of Tau
|
1 year
|
CSF Nfl
Time Frame: 1 year
|
Levels of Nfl
|
1 year
|
CSF GFAP
Time Frame: 1 year
|
Levels of GFAP
|
1 year
|
CSF Prion protein
Time Frame: 1 year
|
Levels of Prion protein
|
1 year
|
CSF Prion biomarkers
Time Frame: 1 year
|
RT-QuIC levels
|
1 year
|
Cognition
Time Frame: 1 year
|
NIH Toolbox measures of cognition
|
1 year
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Steven M Arnold, MD, MGH
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Mental Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Infections
- Sleep Disorders, Intrinsic
- Dyssomnias
- Sleep Wake Disorders
- Neurocognitive Disorders
- Central Nervous System Infections
- Neurodegenerative Diseases
- Dementia
- Sleep Initiation and Maintenance Disorders
- Prion Diseases
- Insomnia, Fatal Familial
- Creutzfeldt-Jakob Syndrome
Other Study ID Numbers
- 2017P000214
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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