Early detection of hereditary heart amyloid in people with the V122I TTR gene
Official title: Detection and quantification of amyloidosis deposition and circulating amyloid fibrils in asymptomatic carriers of the V122I TTR allele
Funded at Ut Southwestern Medical Center · NIH-11048179 · Data updated 2026-11-12
This project looks for tiny clumps of transthyretin amyloid in the blood and early heart involvement using a special iodine-124 PET scan in people who carry the V122I TTR variant, a change common in people of African ancestry.
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 | September 1, 2025 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $691,556 |
| NIH project number | 1R01HL172993-01A1 |
| Project ID | NIH-11048179 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults of African ancestry who are known V122I TTR gene carriers, including people without symptoms and those with early ATTR-CA who may be on TTR-stabilizing therapy, are the primary candidates.
✕Less likely to help
People who do not carry the V122I TTR variant, those with non-TTR forms of amyloidosis, or patients with advanced, irreversible heart failure are unlikely to benefit from the early-detection focus of this work.
What this research studies
If you carry the V122I change in the TTR gene, researchers would draw blood to measure circulating TTR amyloid aggregates and give a novel iodine-124 PET scan to look for early amyloid build-up in the heart. The team will compare findings between V122I carriers and others and will follow some patients over time. They will also look at whether people receiving TTR-stabilizing drugs show changes in the blood marker. The goal is to find signs of disease before symptoms appear, without needing a heart biopsy.
Why it matters
Potential benefit: If successful, this could allow earlier diagnosis of ATTR cardiac amyloidosis in V122I carriers so treatment can start sooner and potentially prevent heart failure.
How similar studies have gone: Drugs that stabilize TTR have improved outcomes when given early, but blood tests for circulating TTR aggregates and iodine-124 PET imaging for preclinical cardiac amyloid are relatively new and are still being validated.
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
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Detection and measurement of amyloid in people carrying the V122I TTR gene variant
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Identifying Hidden Cardiac Amyloidosis in Black V122I TTR Carriers
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A scientist-led project aims to help people with a heart disease caused by a mutant protein called transthyretin (TTR) by boosting the body’s protein-cleanup systems to remove the harmful TTR deposits.
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Finding transthyretin heart amyloid from lumbar spine surgery tissue
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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.