Clinical trial NCT05124392: Biomarker Profiling in Individuals at Risk for Prion Disease
Official title: Biomarker Profiling in Individuals at Risk for Prion Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: CJD (Creutzfeldt Jakob Disease)
Prion Diseases
GSS
FFI
Familial Fatal Insomnia
Lead sponsor: Massachusetts General Hospital
Sponsor class: OTHER
Collaborators: name: Broad Institute of MIT and Harvard
First posted: 2021-11-18
Enrollment: 80
Sex: ALL
Minimum age (years): 18
Maximum age (years): 85
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 80 people ages 18-85 with history of genetic prion disease

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, spinal fluid collection, and (optional) MRI.

Travel support and stipend is provided for interested individuals.

Eligibility criteria: Inclusion Criteria:

1. Aged 18 - 85,
2. One of the following:

   1. Known carrier of pathogenic PRNP mutation
   2. History of probable or definite prion disease in biological parent and other family members
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.

Primary outcomes:
measure: CSF YKL40
timeFrame: 1 year
measure: CSF Tau
timeFrame: 1 year
measure: CSF Nfl
timeFrame: 1 year
measure: CSF GFAP
timeFrame: 1 year
measure: CSF Prion protein
timeFrame: 1 year
measure: CSF Prion biomarkers
timeFrame: 1 year
measure: Cognition
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Charlestown
country: United States
facility: Alzheimer's Clinical and Translational Research Unit
state: Massachusetts
Study officials:
affiliation: MGH
name: Steven M Arnold, MD
role: PRINCIPAL_INVESTIGATOR
References: