Biomarker Profiling in Individuals at Risk for Prion Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-12-01

Study Completion Date

2027-06-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Brain Tissue Collection for Neuropathological Studies

NCT00001260

Bipolar Disorder Depression Anxiety Disorders +3 more

TERMINATED

Evaluation, Pathogenesis, and Outcome of Subjects With or Suspected Traumatic Brain Injury

NCT01132937

Traumatic Brain Injury

COMPLETED

Neurobiology of Suicide

NCT02543983

Healthy Volunteers Depression

RECRUITING PHASE2

Neuro-immune Interactome in Parkinson's Disease

NCT07026929

Parkinson Disease

ACTIVE_NOT_RECRUITING

Development Of New Techniques For Functional Magnetic Resonance Imaging Of The Brain

NCT00593931

Diagnosis, Psychiatric

TERMINATED NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

CJD (Creutzfeldt Jakob Disease) Prion Diseases GSS FFI Familial Fatal Insomnia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Individuals with a family history of Prion disease

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. 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. 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,
8. No contraindications to MRI scanning as determined via the Martinos Center MRI Screening process (for PRNP mutation carriers ONLY)

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.

Minimum Eligible Age

18 Years

Maximum Eligible Age

85 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes