Biomarker Profiling in Individuals at Risk for Prion Disease

  • STATUS
    Recruiting
  • End date
    Jun 1, 2025
  • participants needed
    80
  • sponsor
    Massachusetts General Hospital
Updated on 25 November 2021

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.

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.

Details
Condition Prion Diseases, GSS, Creutzfeldt-Jakob disease, Fatal Familial Insomnia, Insomnia
Clinical Study IdentifierNCT05124392
SponsorMassachusetts General Hospital
Last Modified on25 November 2021

Eligibility

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  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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