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Study identifier: NCT05489549 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers

Condition: Amyloidosis, Hereditary · Amyloidosis Cardiac · Amyloidosis, Familial  ·  Sponsor: University of Texas Southwestern Medical Center

PhaseN/A
Planned participants500
Who can joinAll sexes, 30 Years to 80 Years
Healthy volunteersNo

About this study

Approximately 1.5 million of the 44 million Blacks in the United States are carriers of the valine-to-isoleucine substitution at position 122 (V122I) in the transthyretin (TTR) protein. Virtually exclusive to Blacks, this is the most common cause of hereditary cardiac amyloidosis (hATTR-CA) worldwide. hATTR-CA leads to worsening heart failure (HF) and premature death. Fortunately, new therapies that stabilize TTR improve morbidity and mortality in hATTR-CA, especially when prescribed early in the disease. However, hATTR-CA is often diagnosed at an advanced stage and conventional diagnostic tools lack diagnostic specificity to detect early disease. The overall objectives of this study are to determine the presence of subclinical hATTR-CA and to identify biomarkers that indicate amyloid progression in V122I TTR carriers. The central hypothesis of this proposal is that hATTR-CA has a long latency period that will be detected through subclinical amyloidosis imaging and biomarker phenotyping. The central hypothesis will be tested by pursuing 2 specific aims: Aim 1) determine the association of V122I TTR carrier status with CMRI evidence of amyloid infiltration; Sub-aim 1) determine the association of V122I TTR carrier status with cardiac reserve; Aim 2) determine the association between amyloid-specific biomarkers and V122I TTR carrier status; and Sub-aim 2) determine the association of amyloid-specific biomarkers with imaging-based parameters and evaluate their diagnostic utili…

This description comes directly from the study's public registry record.

Talk to the study team

Amy Browning  ·  214-645-8040  ·  Amy.Browning@utsouthwestern.edu

Lori R Roth, MS, PAC  ·  214-645-1043  ·  Lori.Roth@utsouthwestern.edu

Always discuss trial participation with your own doctor first.

Locations (3)

Columbia University Medical CenterNew York, New York, United StatesRecruiting
Cleveland ClinicCleveland, Ohio, United StatesRecruiting
University of Texas Southwestern Medical CenterDallas, Texas, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT05489549