Detection and measurement of amyloid in people carrying the V122I TTR gene variant
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-11397680 · Data updated 2026-11-12
This research will look for early signs of heart-related amyloidosis in people with the V122I TTR gene variant using blood tests and a special imaging scan.
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 | 2026 |
| Award (this year) | $659,543 |
| NIH project number | 5R01HL172993-02 |
| Project ID | NIH-11397680 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults of African ancestry who carry the V122I TTR variant and are at risk for hereditary cardiac amyloidosis.
✕Less likely to help
Individuals without the V122I TTR variant or those without signs of early amyloid infiltration may not benefit from these specific tests.
What this research studies
The project aims to identify early amyloid buildup in people of African ancestry who carry the V122I TTR variant, using a blood test for circulating TTR amyloid aggregates and an iodine-124 PET scan to detect heart infiltration. It focuses on how these biomarkers relate to early disease before symptoms appear and how stabilizing therapies might influence these biomarkers over time. By identifying individuals who are at risk earlier, the study hopes to inform timely treatment choices and improve outcomes. The work involves non-invasive testing and imaging, with follow-up to observe changes correlated with therapy. This could pave the way for earlier, more precise diagnosis and better management of hereditary amyloidosis affecting the heart.
Why it matters
Potential benefit: If successful, the study could enable earlier detection and treatment of hereditary cardiac amyloidosis in at-risk individuals, potentially slowing disease progression and improving survival.
How similar studies have gone: Previous work in related amyloidosis biomarker and imaging approaches suggests potential for early detection, though this exact biomarker combination is exploratory.
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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Understanding how kidney-like blood flow may cause amyloid buildup
A research project uses tiny blood-flow devices to study how certain proteins misfold and form amyloid deposits in organs like the kidney and heart.
-
Blood test to detect ATTR amyloidosis earlier using a smart detection kit
A new blood test kit aims to detect ATTR amyloidosis early using a biomarker that appears in patients but not in healthy people.
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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
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
This project looks for transthyretin (TTR) amyloid in tissue removed during lumbar spine surgery to find people who may later develop TTR cardiac amyloidosis.
-
Blood biomarker test for heart amyloidosis in Black and Hispanic people
A blood test called TAD1 is being checked to detect dangerous heart amyloidosis earlier in Black and Hispanic patients who have heart failure.
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.