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RecruitingCJD (Creutzfeldt Jakob Disease)Prion DiseasesGSS

Biomarker Profiling in Individuals at Risk for Prion Disease

Eligible age

18–85 yrs

Accepts

All genders

Locations

1 state

Healthy volunteers

Yes

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About this study

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.

Sponsor: Massachusetts General Hospital

You may qualify if…

  • ✓ 1. 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. Non-carrier family members and/or unrelated previously enrolled negative control volunteers
  • ✓ 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,

You may not qualify if…

  • ✕ 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.

Where it's recruiting

Massachusetts

Charlestown

Source: ClinicalTrials.gov · NCT05124392 · last updated 2026-04-22