Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.

ABSTRACT:

Background

Prion disease is neurodegenerative disease that is typically fatal within months of first symptoms. Clinical trials in this rapidly declining symptomatic patient population have proven challenging. Individuals at high lifetime risk for genetic prion disease can be identified decades before symptom onset and provide an opportunity for early therapeutic intervention. However, randomizing pre-symptomatic carriers to a clinical endpoint is not numerically feasible. We therefore launched a cohort study in pre-symptomatic genetic prion disease mutation carriers and controls with the goal of evaluating biomarker endpoints that may enable informative trials in this population.

Methods

We collected cerebrospinal fluid (CSF) and blood from pre-symptomatic individuals with p

SUBMITTER: Vallabh SM 

PROVIDER: S-EPMC7302371 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature