Note: This study is currently only recruiting patients in the hospital.
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Prion disease biomarker study seeking volunteers
This project is not recruiting.
Overview
What we are studying
Each year, about 1 in 1 million people fall ill to human prion diseases. Prion diseases are caused by misfolded forms of the prion protein, also known as PrP. These diseases affect a lot of different mammals in addition to humans – for instance, there is scrapie in sheep, mad cow disease in cows, and chronic wasting disease in deer. The human forms of prion disease are most often known by the names Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gertsmann-Straussler-Scheinker syndrome (GSS), kuru and variably protease-sensitive prionopathy (VPSPr). All of these diseases are caused by just slightly different versions of the same protein, so we refer to them all as prion diseases.
Why it is important
There is strong evidence that reducing levels of normal prion protein with a drug - if such a drug were to be developed - would delay the onset of genetic prion disease.
What we hope to accomplish
We are primarily gathering data on prion protein levels in cerebrospinal fluid (CSF). We already know that prion protein can be measured in CSF. Now we need to understand more about how stable it is over time in order to understand how well we could measure a drug-dependent reduction.
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Principal Investigator
Who can participate
You may be eligible for this study if you are between the ages of 18 and 85, fluent in English and: Have a family history of genetic prion disease, including genetic Creutzfeld-Jakob Disease (CJD), fatal familial insomnia (FFI), or Gerstmann-Straussler-Scheinker syndrome (GSS).
Who cannot participate
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.
What you may be asked to do
This study involves the following tasks at each visit: Blood Draw Cognitive Testing, Lumbar Puncture, and an MRI for participants 50 years or older. Estimated time commitment: In-person visits scheduled annually, with the option to participate in an interim 6-month virtual visit over Zoom Videoconferencing. The visits will continue for as long as you are willing to participate and for as long as funding allows.
Project activities may include:
- Survey
- Blood draw
- Office visit
- MRI scan
Estimated Time Commitment
1 visit over 12 months
What You May Get
Study participants will receive compensation for their participation in visits, and some reimbursement for travel, lodging, and meal expenses; $250 for each in-person visit completed, up to $800 for travel, and for lodging and meals, limited to the night before and night after the visit, $50 for each virtual visit completed
Location
Martinos Center
149 13th St, Charlestown MA
Travel
- Accessible by public transportation
- Parking reimbursed
- Parking available
- Local travel reimbursed
- Out of state travel possibly reimbursed
Travel and Parking Details
Parking vouchers are available upon request.
Additional Information
Funding Source
- Other