Actively Recruiting
Identifying Subclinical Transthyretin Cardiac Amyloidosis in Adults Carrying the V122I TTR Gene Mutation
Led by University of Texas Southwestern Medical Center · Updated on 2025-06-04
500
Participants Needed
3
Research Sites
N/A
Total Duration
On this page
Sponsors
U
University of Texas Southwestern Medical Center
Lead Sponsor
T
The Cleveland Clinic
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying hereditary transthyretin cardiac amyloidosis (hATTR-CA), a heart condition caused by a genetic change common among Black individuals. This condition often leads to heart failure and early death but can be difficult to diagnose early using current methods. The study aims to find early signs of hATTR-CA and identify biomarkers that show disease progression in people carrying the V122I mutation in the transthyretin (TTR) protein. Participants include V122I TTR carriers without heart failure, matched non-carrier controls, and patients with symptomatic V122I hATTR-CA. The study uses cardiac magnetic resonance imaging (CMRI) and exercise CMRI to assess heart function and amyloid buildup. Blood samples will be collected to measure biomarkers linked to amyloid development and compared across these groups. Participants will undergo detailed heart imaging and biomarker testing at baseline. Those enrolled at one site will also have exercise CMRI to evaluate heart reserve. The primary outcomes include measures of amyloid infiltration and stroke volume changes from imaging. Researchers will monitor biomarker levels to see how well they detect early disease. The study will last until June 2027 and involves adults aged 30 to 80 years.
CONDITIONS
Brief Title
Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Men and women aged 30 to 80 years
- V122I TTR carriers or matched non-carriers without history of heart failure
- No hospitalization for heart failure within the past 12 months
- No elevated B-type natriuretic peptide or NT-proBNP levels indicating heart failure within the past 12 months
- Signed informed consent
You will not qualify if you...
- History of heart failure or hospitalization for heart failure
- Other known causes of cardiomyopathy
- History of light-chain cardiac amyloidosis
- Prior type 1 myocardial infarction (NSTEMI or STEMI)
- Cardiac transplantation
- Body weight over 250 pounds
- Estimated kidney function (eGFR) less than 30 mL/min/1.73 m2
- Inability to safely undergo cardiac MRI
- Liver transplantation
- Previous treatment with TTR stabilizers or silencers within the prior 14 days
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - 1 day
Participants undergo standardized, detailed cardiac MRI (CMRI) assessments and biomarker tests to evaluate amyloid progression and heart function.
1 visit (in-person)
Duration - Up to study completion in 2027
Participants are observed over time for changes in cardiac health and amyloid progression without receiving active treatment.
Trial Site Locations
Total: 3 locations
1
Columbia University Medical Center
New York, New York, United States, 10032
Actively Recruiting
2
Cleveland Clinic
Cleveland, Ohio, United States, 44195
Actively Recruiting
3
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390
Actively Recruiting
Research Team
A
Amy Browning
L
Lori R Roth, MS, PAC
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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