Biomarker Profiling in Individuals at Risk for Prion Disease

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.

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,
• At least 5 years of education,
• Capable of providing informed consent and following study procedures,
• No contraindications to MRI scanning as determined via the Martinos Center MRI Screening process (for PRNP mutation carriers ONLY)

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.