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Biomarker Profiling in Individuals at Risk for Prion Disease

Sponsor
Massachusetts General Hospital (Other)
Overall Status
Recruiting
CT.gov ID
NCT05124392
Collaborator
Broad Institute (Other)
80
Enrollment
1
Location
90
Anticipated Duration (Months)
0.9
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials.

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    80 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Biomarker Profiling in Individuals at Risk for Prion Disease
    Actual Study Start Date :
    Dec 1, 2017
    Anticipated Primary Completion Date :
    Jun 1, 2025
    Anticipated Study Completion Date :
    Jun 1, 2025

    Arms and Interventions

    Arm Intervention/Treatment
    Individuals with a family history of Prion disease

    Individuals with a family history of Prion disease

    Outcome Measures

    Primary Outcome Measures

    1. CSF YKL40 [1 year]

      Levels of YKL40

    2. CSF Tau [1 year]

      Levels of Tau

    3. CSF Nfl [1 year]

      Levels of Nfl

    4. CSF GFAP [1 year]

      Levels of GFAP

    5. CSF Prion protein [1 year]

      Levels of Prion protein

    6. CSF Prion biomarkers [1 year]

      RT-QuIC levels

    7. Cognition [1 year]

      NIH Toolbox measures of cognition

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years to 85 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    1. Aged 18 - 85,

    2. One of the following:

    3. Known carrier of pathogenic PRNP mutation

    4. History of probable or definite prion disease in biological parent and other family members

    5. Medically safe to undergo blood draw, lumbar puncture and cognitive testing,

    6. Adequate visual and auditory acuity to complete cognitive testing,

    7. Fluent in English,

    8. At least 5 years of education,

    9. Capable of providing informed consent and following study procedures.

    Exclusion Criteria:

    1. 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,

    2. History of alcohol or other substance abuse or dependence within the past two years,

    3. Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,

    4. 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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Alzheimer's Clinical and Translational Research Unit Charlestown Massachusetts United States 02129

    Sponsors and Collaborators

    • Massachusetts General Hospital
    • Broad Institute

    Investigators

    • Principal Investigator: Steven M Arnold, MD, MGH

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Steven E Arnold, Professor of Neurology, Massachusetts General Hospital
    ClinicalTrials.gov Identifier:
    NCT05124392
    Other Study ID Numbers:
    • 2017P000214
    First Posted:
    Nov 18, 2021
    Last Update Posted:
    Nov 18, 2021
    Last Verified:
    Nov 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Prion Diseases
    Creutzfeldt-Jakob Syndrome
    Insomnia, Fatal Familial

    Study Results

    No Results Posted as of Nov 18, 2021