Biomarker Profiling in Individuals at Risk for Prion Disease

Description

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.

Conditions

CJD (Creutzfeldt Jakob Disease), Prion Diseases, GSS, FFI, Familial Fatal Insomnia

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Study Overview

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Study Details

Study overview

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.

Biomarker Profiling in Individuals at Risk for Prion Disease

Biomarker Profiling in Individuals at Risk for Prion Disease

Condition
CJD (Creutzfeldt Jakob Disease)
Intervention / Treatment

-

Contacts and Locations

Charlestown

Alzheimer's Clinical and Translational Research Unit, Charlestown, Massachusetts, United States, 02129

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Aged 18 - 85,
  • 2. One of the following:
  • 1. Known carrier of pathogenic PRNP mutation
  • 2. History of probable or definite prion disease in biological parent and other family members
  • 3. Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
  • 4. Adequate visual and auditory acuity to complete cognitive testing,
  • 5. Fluent in English,
  • 6. At least 5 years of education,
  • 7. Capable of providing informed consent and following study procedures.
  • 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.

Ages Eligible for Study

18 Years to 85 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Massachusetts General Hospital,

Steven M Arnold, MD, PRINCIPAL_INVESTIGATOR, MGH

Study Record Dates

2025-06-01