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Observational Study on Early Detection of Cardiac Amyloidosis in V122I TTR Carriers

This study is looking at how to detect early signs of a heart condition called hereditary cardiac amyloidosis (hATTR-CA) in people who carry a specific gene change (V122I TTR). This condition, which is more common in Black individuals, can lead to heart failure. While new treatments exist, early diagnosis is key. Researchers want to see if they can find evidence of amyloid (a protein that builds up in the heart) using a measurement called ECV, and also look at changes in heart function (stroke volume index). You may be able to join if you are between 30 and 80 years old and carry the V122I TTR gene or other related gene changes, and do not have a history of heart failure.

Study design
This is an observational study aiming to enroll 500 participants. It is not testing a specific treatment but rather observing how a condition develops.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Measurements are taken at baseline for V122I TTR carriers and matched controls.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05489549

Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers

Recruiting
Not specifiedAges 30–80Observational
University of Texas Southwestern Medical Center
~500 participants
Updated 2026-06-26 on ClinicalTrials.gov

At a glance

Recruiting sites
3 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
(Aim 1) Evidence of amyloid infiltration as measured by ECV
Measured over At baseline (for V122I TTR carriers and age-, sex-, and race-matched controls)
+1 more outcome measured

Conditions

Amyloidosis, Hereditary
Amyloidosis Cardiac
Amyloidosis, Familial
Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy
Transthyretin Gene Mutation

Explore related trials

ATTR AmyloidosisCardiac Amyloidosis

Where it's being run

3 sites across 3 states
New York1
Ohio1
Texas1

Study leadership

  • Justin L Grodin, MD MPH · PRINCIPAL_INVESTIGATOR · UT Southwestern

Who to contact

Amy Browning
[email protected]
214-645-8040
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Men and women ages 30-80 who are carriers of pathogenic TTR alleles (or matched non-carriers) without history of HF (this will be assessed by study personnel) and defined as: a) No history of hospitalization within the previous 12 months for management of HF; b) Without an elevated B-type natriuretic peptide level ≥100 pg/mL or NT-proBNP ≥360 pg/mL within the previous 12 months; or c) No clinical diagnosis of HF from a treating clinician
Signed informed consent
Men and women ages 30-80 who have symptomatic hATTR-CA as determined by a history of HF (this will be assessed by study personnel) and defined as: a) History of hospitalization within the previous 12 months for management of HF; b) An elevated B-type natriuretic peptide level ≥100 pg/mL or NT-proBNP ≥360 pg/mL within the previous 12 months; or c) A clinical diagnosis of HF from a treating clinician.
Have an established or suspected diagnosis of hATTR-CA based on either a) Biopsy confirmed by Congo red (or equivalent) staining with tissue typing with immunohistochemistry or mass spectrometric analysis or immunoelectron microscopy, OR b) positive technetium-99m (99mTc)-pyrophosphate or -bisphosphonate scan, combined with accepted laboratory criteria without abnormal M-protein.
TTR gene sequencing that is pending or that is confirming the pathogenic TTR variant
Signed informed consent

Exclusion

A self-reported history or clinical history of HF
Other known causes of cardiomyopathy
History of light-chain cardiac amyloidosis
Prior type 1 myocardial infarction (non-ST segment elevation myocardial Infarction {NSTEMI} or ST-elevation myocardial infarction {STEMI})
Cardiac transplantation
Body weight \>250 lbs
Estimated glomerular filtration rate ≤30 mL/min/1.73 m2
Inability to safely undergo CMRI
Other known causes of cardiomyopathy
History of light-chain cardiac amyloidosis
Cardiac transplantation
Liver transplantation
Previous treatment with a TTR stabilizer (tafamidis, acoramidis) within the prior 14 days or TTR any silencer (inotersen, patisiran, eplontersen)
Estimated glomerular filtration rate ≤30 mL/min/1.73 m2

What this trial measures

  • (Aim 1) Evidence of amyloid infiltration as measured by ECVAt baseline (for V122I TTR carriers and age-, sex-, and race-matched controls)

    ECV expansion represents interstitial expansion from amyloid infiltration and greater levels can distinguish amyloidosis from other hypertrophic cardiomyopathies and correlate with cardiac amyloidosis disease severity.

  • (Sub-aim 1) Δ stroke volume index (ΔSVi)At baseline (for V122I TTR carriers and age-, sex-, and race-matched controls) enrolled at UT Southwestern

    We will measure and compare ΔSVi (%) from rest to peak stress in V122I TTR carriers and non-carrier controls. Participants will exercise within the bore of the magnet using an MR compatible ergometer with adjustable electronic resistance (Ergospect Cardio-Stepper, Ergospect). Cardiac imaging will be performed at rest and during exercise at 25% (low intensity), 50% (moderate intensity), and 66% (heavy intensity) of maximal predicted work rate. Workloads will be maintained for \~5 min at each stage - 3 min to achieve a physiological steady-state and then 2 minutes for image acquisition.