Identifying biomarkers in individuals at risk for prion disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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.

Where it's running

• 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
• Email: MGHPrionStudy@partners.org
• Phone: 617-726-4026

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Prospective Registry for People at Risk of Genetic Prion Disease

  This registry tests how PRNP gene mutations and related health changes unfold over time in adults who may develop genetic prion disease.

  Recruiting University Hospitals Cleveland Medical Center · Cleveland, Ohio · NCT07732608

• Teleneurology assessment for Creutzfeldt-Jakob disease

  This study tests how well remote videoconference visits work to track adults with Creutzfeldt-Jakob disease over time, with input from a trusted study partner.

  Recruiting University Hospitals Cleveland Medical Center · Cleveland, Ohio · NCT07840547

• Observing the natural history of genetic Creutzfeldt-Jakob Disease

  This study is trying to learn more about genetic Creutzfeldt-Jakob Disease by looking at patients and their family members who carry a specific gene mutation to see how the disease develops and what might trigger symptoms.

  Recruiting Tel-Aviv Sourasky Medical Center · Tel Aviv · NCT05746715

• Efavirenz for Creutzfeldt-Jakob Disease (CJD)

  This study tests whether efavirenz can help people with Creutzfeldt-Jakob disease compared with a placebo, across multiple centers.

  Recruiting Phase 3 Xuanwu Hospital, Beijing · Beijing · NCT07482085

• PrP-targeting siRNA safety and mechanism in people with prion disease

  This trial will test whether a single spinal (intrathecal) dose of PrP-targeting siRNA is safe and changes disease-related markers in people with symptomatic prion disease.

  Recruiting at 5 sites Phase 1 Broad Institute of MIT and Harvard · Boston, Massachusetts and 4 other locations · NCT07444580

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.