OBSERVE: Biomarkers in Individuals at Risk for Prion Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-85
SponsorMassachusetts General Hospital
About this trial
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.
Eligibility criteria
Qualifiers
Aged 18 - 85,
a. Known carrier of pathogenic PRNP mutation
b. History of probable or definite prion disease in biological parent and other family members
c. Non-carrier family members and/or unrelated previously enrolled negative control volunteers
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
150 Participants
are grouped into 1 trial groupSponsors and collaborators
Massachusetts General Hospital
Lead sponsor
Broad Institute of MIT and Harvard
Collaborator
Source ClinicalTrials.gov