Hidden transthyretin heart amyloid in people with the V122I gene
Official title: IDENTIFYING SUBCLINICAL TRANSTHYRETIN CARDIAC AMYLOIDOSIS IN ASYMPTOMATIC CARRIERS OF THE V122I TTR ALLELE
Funded at Ut Southwestern Medical Center · NIH-11095793 · Data updated 2026-11-12
This project looks for early signs of transthyretin-related heart amyloid in Black adults who carry the V122I gene change.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $703,127 |
| NIH project number | 5R01HL160892-04 |
| Project ID | NIH-11095793 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are Black adults who are known carriers of the V122I TTR variant and do not yet have symptoms of heart failure.
✕Less likely to help
People who do not carry the V122I variant or who already have advanced, symptomatic cardiac amyloidosis are unlikely to benefit from this early-detection effort.
What this research studies
If you carry the V122I change in the TTR gene, researchers will use heart MRI scans, blood tests, and measures of cardiac function to look for subclinical amyloid buildup and reduced cardiac reserve. They will compare imaging findings with amyloid-specific blood biomarkers to find patterns that signal early disease. The team aims to define which tests best show progression before symptoms develop so treatment could be started sooner.
Why it matters
Potential benefit: If successful, this work could enable earlier detection of transthyretin cardiac amyloidosis in V122I carriers so therapies can begin before heart failure develops.
How similar studies have gone: Drugs that stabilize TTR have improved outcomes for symptomatic patients, but using imaging and biomarkers to detect subclinical V122I-related disease is a newer approach with limited prior validation.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Grodin, Justin Lee — Ut Southwestern Medical Center
- Study coordinator: Grodin, Justin Lee
Related research
Other NIH-funded projects on the same topics.
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Identifying Hidden Cardiac Amyloidosis in Black V122I TTR Carriers
This project looks for early signs of heart damage in Black individuals who carry the V122I TTR variant and may benefit from new treatments if caught early.
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Chip phosphorylation boosts breakdown of mutant TTR to help heart amyloidosis
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Finding transthyretin heart amyloid from lumbar spine surgery tissue
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A new PET tracer is being developed to help visualize amyloid buildup in the heart, potentially helping people with amyloidosis and related heart disease.
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Why losing parts of the Y chromosome may drive TTR heart amyloidosis in men
The team is looking at whether loss of the Y chromosome in blood cells helps explain why men develop transthyretin (TTR) heart amyloidosis.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.