Investigating early signs of heart disease in specific genetic carriers
Official title: Identifying Subclinical Transthyretin Cardiac Amyloidosis in Asymptomatic Carriers of the V122I TTR Allele
Run by University of Texas Southwestern Medical Center · NCT05489549 · Data updated 2026-11-12
This study is trying to find early signs of heart disease in people with a specific genetic mutation linked to a heart condition called amyloidosis to help catch the disease sooner.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 30 Years to 80 Years |
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | University of Texas Southwestern Medical Center Academic / other |
| Locations | 3 sites (New York, New York and 2 other locations) |
| Status | Recruiting |
| Started | November 21, 2022 |
| Main results expected | June 30, 2027 |
| Study ends | June 30, 2027 |
| Registry record updated | August 31, 2026 |
| Trial ID | NCT05489549 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are men and women aged 30-80 who are V122I TTR carriers or matched non-carriers without a history of heart failure.
✕Probably not a fit
Patients with a self-reported history of heart failure or other known causes of cardiomyopathy may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study focuses on individuals who are carriers of the V122I transthyretin (TTR) mutation, which is linked to hereditary cardiac amyloidosis. The study aims to identify the presence of subclinical heart disease and potential biomarkers that indicate the progression of amyloidosis in these carriers. By utilizing advanced imaging techniques and biomarker analysis, the research seeks to detect early stages of the disease, which is often diagnosed too late for effective treatment. The findings could lead to improved early diagnosis and management strategies for affected individuals.
Why it matters
Potential benefit: If successful, this study could lead to earlier detection and intervention for patients at risk of hereditary cardiac amyloidosis, potentially improving their outcomes.
How similar studies have gone: While this approach is focused on a specific genetic mutation, similar studies have shown promise in early detection of cardiac amyloidosis, suggesting potential for success.
Who can join: the full rules
Show full inclusion / exclusion criteria
(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
Where it's running
-
Columbia University Medical Center
New York, New York, United States Recruiting -
Cleveland Clinic
Cleveland, Ohio, United States Recruiting -
University of Texas Southwestern Medical Center
Dallas, Texas, United States Recruiting
Study contacts
- Principal investigator: Justin L Grodin, MD MPH — UT Southwestern
- Study coordinator: Amy Browning
- Email: Amy.Browning@utsouthwestern.edu
- Phone: 214-645-8040
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Using tiny blood particles to detect and track ATTR heart amyloidosis
This project will test whether tiny blood particles called extracellular vesicles can help detect and track transthyretin (ATTR) amyloid cardiomyopathy in people with or at risk for ATTR.
-
Detecting cardiac amyloidosis in people with severe aortic valve narrowing
This study tests non-invasively whether imaging tests can find heart amyloidosis in patients with severe aortic stenosis who are being evaluated for valve replacement.
-
Multimodal analysis of heart biopsy samples
This project will take one extra small heart biopsy during a clinically needed procedure to test whether detailed molecular and immune analyses can find disease-specific signatures in adults with cardiomyopathies, myocarditis, cardiac amyloidosis, or after heart transplant.
-
Comprehensive program for hereditary transthyretin amyloidosis
This program will collect detailed clinical and genetic information from adults with hereditary transthyretin amyloidosis to see how the disease starts and progresses.
-
Belgian Amyloidosis Biobank and Patient Registry at UZ Leuven
This project collects and stores blood, tissue samples, and medical data from adults with suspected or confirmed amyloidosis to create a biobank and registry for future research.
-
PET, MRI and ultrasound to track heart changes in ATTR cardiac amyloidosis
This study will try PET, MRI and ultrasound scans in people with ATTR cardiac amyloidosis starting tafamidis to see if the new images explain why some patients keep getting worse.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.