Biomarker Profiling in Individuals at Risk for Prion Disease

NCT05124392 | Recruiting

• 1 other identifier: 2017P000214
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (7)

• CSF YKL40

  Levels of YKL40

  1 year

• CSF Tau

  Levels of Tau

  1 year

• CSF Nfl

  Levels of Nfl

  1 year

• CSF GFAP

  Levels of GFAP

  1 year

• CSF Prion protein

  Levels of Prion protein

  1 year

• CSF Prion biomarkers

  RT-QuIC levels

  1 year

• Cognition

  NIH Toolbox measures of cognition

  1 year

Study Arms (1)

Individuals with a family history of Prion disease

Individuals with a family history of Prion disease

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

100 people ages 18-85 with history of genetic prion disease and 50 non-carrier healthy controls

You may qualify if:

• \. 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Broad Institute of MIT and Harvard: collaborator

Study Sites (1)

Alzheimer's Clinical and Translational Research Unit

Charlestown, Massachusetts, 02129, United States

RECRUITING

Related Publications (1)

• 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 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood and Cerebral Spinal Fluid for biomarker quantification

MeSH Terms

Conditions

Insomnia, Fatal Familial; Prion Diseases

Condition Hierarchy (Ancestors)

Central Nervous System Infections; Infections; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Sleep Initiation and Maintenance Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders

Study Officials

• Steven E Arnold, MD

  MGH

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sophia D'Alessandro

CONTACT

617-726-4026; sedalessandro@mgh.harvard.edu

Alison McManus, DNP

CONTACT

ajmcmanus@mgh.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 8 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology

Study Record Dates

• First Submitted: October 27, 2021
• First Posted: November 18, 2021
• Study Start: December 1, 2017
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: April 22, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)