CJD (Creutzfeldt Jakob Disease), Familial Fatal Insomnia, FFI, GSS, Prion Diseases
Conditions
Brief 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.
Detailed 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, and spinal fluid collection. Travel support and stipend is provided for interested individuals.
Interventions
None listed
Sponsors
Massachusetts General Hospital
Broad Institute of MIT and Harvard
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 85 Years
Healthy volunteers
No
Inclusion criteria
1. Aged 18 - 85, 2. One of the following: * 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 3. Medically safe to undergo blood draw, lumbar puncture and cognitive testing, 4. Adequate visual and auditory acuity to complete cognitive testing, 5. Fluent in English, 6. At least 5 years of education, 7. Capable of providing informed consent and following study procedures,
Exclusion criteria
1. 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, 2. History of alcohol or other substance abuse or dependence within the past two years, 3. Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study, 4. 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| CSF YKL40 | 1 year | Levels of YKL40 |
| CSF Tau | 1 year | Levels of Tau |
| CSF Nfl | 1 year | Levels of Nfl |
| CSF GFAP | 1 year | Levels of GFAP |
| CSF Prion protein | 1 year | Levels of Prion protein |
| CSF Prion biomarkers | 1 year | RT-QuIC levels |
| Cognition | 1 year | NIH Toolbox measures of cognition |
Countries
United States
Contacts
CONTACTSophia D'Alessandro
CONTACTAlison McManus, DNP
PRINCIPAL_INVESTIGATORSteven E Arnold, MD
MGH
Outcome results
None listed