Understanding and treating desmoplakin-related heart conditions
Desmoplakinopathies: Integrated Pathophysiology and Therapeutics
This study is looking at a heart condition called Arrhythmogenic Cardiomyopathy (ACM) that can cause serious heart problems, especially in younger people, and it aims to understand how certain proteins in the heart are linked to this condition to help identify who might be at greater risk and improve care for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11059891 on NIH RePORTER |
What this research studies
This research focuses on Arrhythmogenic Cardiomyopathy (ACM), a genetic heart condition that can lead to dangerous heart rhythms and sudden cardiac death, particularly in young individuals. The study aims to investigate the role of desmosomal proteins, specifically desmoplakin, in this disease and to identify which individuals carrying mutations are at risk for severe outcomes. By understanding the pathophysiology and genetic factors involved, the research seeks to develop better prevention strategies and therapeutic approaches for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of Arrhythmogenic Cardiomyopathy or those identified as carriers of desmoplakin mutations.
Not a fit: Patients without a genetic predisposition to desmoplakinopathies or those with unrelated heart conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved risk assessment and management strategies for patients with desmoplakin-related heart conditions, potentially saving lives.
How similar studies have performed: Previous research has shown promise in understanding genetic heart conditions, but this specific focus on desmoplakin-related ACM is relatively novel.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Campbell, Stuart G — Yale University
- Study coordinator: Campbell, Stuart G
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.