Biomarker Profiling in Individuals at Risk for Prion Disease

Familial Fatal Insomnia Clinical Trial

Official title:

Biomarker Profiling in Individuals at Risk for Prion Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05124392
• Other study ID #: 2017P000214
• Status: Recruiting
• Start date: December 1, 2017
• Est. completion date: June 1, 2025

Study information

• Verified date: March 2024
• Source: Massachusetts General Hospital
• Contact: Ashley Kupferschmid
• Phone: 617 726 4026
• Email: AKUPFERSCHMID[@]mgh.harvard.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 80
• Est. completion date: June 1, 2025
• Est. primary completion date: June 1, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 85 Years

Eligibility

Inclusion Criteria:

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. 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.

Related Conditions & MeSH terms

• Creutzfeldt-Jakob Syndrome
• Familial Fatal Insomnia
• Prion Diseases

Locations

Country	Name	City	State
United States	Alzheimer's Clinical and Translational Research Unit	Charlestown	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Massachusetts General Hospital	Broad Institute

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	CSF YKL40	Levels of YKL40	1 year
Primary	CSF Tau	Levels of Tau	1 year
Primary	CSF Nfl	Levels of Nfl	1 year
Primary	CSF GFAP	Levels of GFAP	1 year
Primary	CSF Prion protein	Levels of Prion protein	1 year
Primary	CSF Prion biomarkers	RT-QuIC levels	1 year
Primary	Cognition	NIH Toolbox measures of cognition	1 year