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Clinical Trial 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.

Clinical Trial Description

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. ;

Study Design

Related Conditions & MeSH terms

NCT number NCT05124392
Study type Observational [Patient Registry]
Source Massachusetts General Hospital
Contact Shona Allen
Phone 617-726-0928
Email [email protected]
Status Recruiting
Start date December 1, 2017
Completion date June 1, 2025

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