Hidden heart risk: study aims to catch deadly protein buildup before symptoms start
NCT ID NCT05489549
First seen Jun 27, 2026 · Last updated Sep 01, 2026 · Updated 2 times
Summary
This study is looking for early signs of heart amyloidosis in Black adults who carry a specific gene change (V122I TTR) that raises their risk. Researchers will use heart MRI scans and blood tests to detect protein buildup before symptoms appear. The goal is to find ways to diagnose the disease earlier, when treatments work best. About 500 participants will be enrolled.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could lead to earlier detection of heart amyloidosis in at-risk individuals, allowing treatment before heart failure develops.
- What could go wrong
- This is an observational study, not a treatment trial. It may not find reliable early markers, and results may not apply to all populations.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 500 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Nov 2022
- Expected to finish
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Jun 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
For Aim 1, the will be a cross-sectional cohort study of 200 pathogenic TTR allele carriers and 200 age-, sex- and race-matched non-carrier controls without heart failure. For Sub-aim 1, this will be a cross-sectional sub-study of the 2 groups enrolled in Aim 1 at UT Southwestern. For Aim 2, this will be a cross-sectional cohort study of 200 pathogenic TTR allele carriers without HF (see Aim 1, Approach), 200 age-, sex-, and race-matched controls (see Aim 1), and 100 patients with symptomatic hATTR-CA who will undergo detailed biomarker assessments.
- Ages
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30 to 80 years
- Sex
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Anyone
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
(V122I TTR carriers and carriers of other pathogenic TTR alleles (or matched non-carriers)) Inclusion Criteria: * 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 Exclusion Criteria: * 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 (For participants with symptomatic hATTR-CA, we will enroll probands with HF from Aim 1 or patients with suspected symptomatic hATTR-CA from the three study sites.) Inclusion Criteria: * 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 Criteria: * 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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
3 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Cleveland Clinic
RECRUITINGCleveland, Ohio, 44195, United States
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Columbia University Medical Center
RECRUITINGNew York, New York, 10032, United States
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University of Texas Southwestern Medical Center
RECRUITINGDallas, Texas, 75390, United States
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- Gene Editing's lasting impact: a Long-Term look at NTLA-2001
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- New study tracks heart disease progression with Cutting-Edge MRI
- Heart rhythm risks in ATTR amyloidosis patients on tafamidis under scrutiny