Identifying biomarkers in individuals at risk for prion disease

Biomarker Profiling in Individuals at Risk for Prion Disease

This study is trying to find specific markers in people who might develop genetic prion diseases to see if they can help predict when the disease will start.

Quick facts

• Study type: Observational
• Enrollment: 150 (estimated)
• Ages: 18 Years to 85 Years
• Sex: All
• Sponsor: Massachusetts General Hospital (Academic / other)
• Locations: 1 site (Charlestown, Massachusetts)
• Trial ID: NCT05124392 on ClinicalTrials.gov

What this trial studies

This research focuses on measuring biomarkers in individuals who are at risk of developing genetic prion diseases, such as Creutzfeldt Jakob Disease and Familial Fatal Insomnia. The study aims to identify clinical assays and molecular markers that can enhance understanding of pre-clinical pathology and predict the timing of disease onset in pre-symptomatic individuals. Participants will undergo annual visits that include medical exams, blood draws, cognitive tests, and optional MRI scans. The goal is to guide future clinical trials and treatment efficacy evaluations.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 18-85 with a known pathogenic PRNP mutation or a family history of prion disease.

Not a fit: Patients with other significant CNS diseases or unstable medical conditions may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to earlier detection and intervention strategies for individuals at risk of prion diseases.

How similar studies have performed: While there have been studies on biomarkers in neurodegenerative diseases, this specific approach to familial prion disease is relatively novel.

Eligibility criteria

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.

Where this trial is running

Charlestown, Massachusetts

• Alzheimer's Clinical and Translational Research Unit — Charlestown, Massachusetts, United States (Recruiting)

Study contacts

• Principal investigator: Steven E Arnold, MD — Mgh
• Study coordinator: Sophia D'Alessandro

Conditions CJD; Prion Diseases; GSS; FFI; Familial Fatal Insomnia