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Recruiting NCT05124392

Biomarker Profiling in Individuals at Risk for Prion Disease

— Observational CJD (Creutzfeldt Jakob Disease) Prion Diseases GSS FFI

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: CJD (Creutzfeldt Jakob Disease), Prion Diseases, GSS, FFI. Basic parameters: 18 years — 85 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Primary outcome measures

  • CSF YKL40 [Time frame: 1 year]
  • CSF Tau [Time frame: 1 year]
  • CSF Nfl [Time frame: 1 year]
  • CSF GFAP [Time frame: 1 year]
  • CSF Prion protein [Time frame: 1 year]
  • CSF Prion biomarkers [Time frame: 1 year]
  • Cognition [Time frame: 1 year]

Eligibility criteria

Inclusion criteria

  • 1\. Aged 18 - 85,
  • One of the following:
  • Known carrier of pathogenic PRNP mutation
  • History of probable or definite prion disease in biological parent and other family members
  • Non-carrier family members and/or unrelated previously enrolled negative control volunteers
  • Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
  • Adequate visual and auditory acuity to complete cognitive testing,
  • Fluent in English,
  • At least 5 years of education,
  • Capable of providing informed consent and following study procedures,
  • No contraindications to MRI scanning as determined via the Martinos Center MRI Screening process (for PRNP mutation carriers ONLY)

Exclusion criteria

  • 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,
  • History of alcohol or other substance abuse or dependence within the past two years,
  • Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,
  • 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • Alzheimer's Clinical and Translational Research Unit — Charlestown

Publications

  • Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisakk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather LE, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion. Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506. Epub 2024 Jun 19. PMID 38896810

Identifiers

NCT: NCT05124392 · 2017P000214

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗