Identifying early signs of hereditary TTR amyloidosis in high-risk minority groups
Official title: Uncovering early signals of hereditary TTR amyloidosis in minority populations at high genetic risk
Funded at Icahn School of Medicine at Mount Sinai · NIH-11067800 · Data updated 2026-11-12
This study is looking at hereditary TTR amyloidosis to find early signs of the disease, especially in African American and Hispanic/Latino communities, so that people can get diagnosed and treated sooner.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 1, 2021 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $601,806 |
| NIH project number | 5R01HL155356-05 |
| Project ID | NIH-11067800 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals from African American and Hispanic/Latino backgrounds who may carry the pathogenic TTR variant associated with increased risk of cardiac amyloidosis.
✕Less likely to help
Patients who do not belong to high-risk minority populations or do not carry the specific TTR variant may not benefit from this research.
What this research studies
This research focuses on understanding hereditary TTR amyloidosis, a condition that can lead to serious heart and nerve diseases, particularly in African American and Hispanic/Latino populations. The study aims to identify early warning signs of the disease to facilitate timely diagnosis and treatment. By examining genetic variants and their clinical manifestations, researchers hope to uncover the full spectrum of symptoms associated with this condition. This approach emphasizes a genotype-first methodology, which may provide insights into non-specific symptoms that could indicate future health risks.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnosis and better management of hereditary TTR amyloidosis, potentially improving patient outcomes.
How similar studies have gone: Previous research has shown promise in identifying early signs of hereditary conditions in diverse populations, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Kontorovich, Amy R. — Icahn School of Medicine at Mount Sinai
- Study coordinator: Kontorovich, Amy R.
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.
-
Detection and measurement of amyloid in people carrying the V122I TTR gene variant
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.
-
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.
-
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.
-
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.
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.