Hidden transthyretin heart amyloid in people with the V122I gene
IDENTIFYING SUBCLINICAL TRANSTHYRETIN CARDIAC AMYLOIDOSIS IN ASYMPTOMATIC CARRIERS OF THE V122I TTR ALLELE
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 ID | NIH-11095793 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates are Black adults who are known carriers of the V122I TTR variant and do not yet have symptoms of heart failure.
Not a fit: 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.
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 performed: 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
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Grodin, Justin Lee — Ut Southwestern Medical Center
- Study coordinator: Grodin, Justin Lee
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 below.