Identifying early signs of hereditary TTR amyloidosis in high-risk minority groups
Uncovering early signals of hereditary TTR amyloidosis in minority populations at high genetic risk
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 ID | NIH-11067800 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: Patients who do not belong to high-risk minority populations or do not carry the specific TTR variant may not benefit from this research.
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 performed: 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
New York, United States
- 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.
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.