RecruitingNot Applicable

Biomarker Profiling in Individuals at Risk for Prion Disease

United States150 participantsStarted 2017-12-01

Plain-language 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.

Who can participate

Age range18 Years – 85 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 1\. 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
✓. Non-carrier family members and/or unrelated previously enrolled negative control volunteers
✓. Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
✓. Adequate visual and auditory acuity to complete cognitive testing,
✓. Fluent in English,

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.

What they're measuring

CSF YKL40

Timeframe: 1 year

CSF Tau

Timeframe: 1 year

CSF Nfl

Timeframe: 1 year

CSF GFAP

Timeframe: 1 year

CSF Prion protein

Timeframe: 1 year

CSF Prion biomarkers

Timeframe: 1 year

Cognition

Timeframe: 1 year

Trial details

NCT IDNCT05124392

SponsorMassachusetts General Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-06-01

Contact for this trial

Sophia D'Alessandro

617-726-4026 sedalessandro@mgh.harvard.edu

View on ClinicalTrials.gov More CJD (Creutzfeldt Jakob Disease) trials

Who can participate

Age range18 Years – 85 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 1\. 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
✓. Non-carrier family members and/or unrelated previously enrolled negative control volunteers
✓. Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
✓. Adequate visual and auditory acuity to complete cognitive testing,
✓. Fluent in English,

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.