Desmoplakin-related inherited heart disease (DSP cardiomyopathy)
Desmoplakinopathies: Integrated Pathophysiology and Therapeutics
New approaches to prevent dangerous heart rhythms and heart failure in people who carry desmoplakin (DSP) gene mutations.
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-11314562 on NIH RePORTER |
What this research studies
This project focuses on DSP cardiomyopathy, a genetic heart condition that can cause life-threatening arrhythmias and heart muscle damage, often in young people. Researchers will study people who carry pathogenic DSP gene variants using heart imaging, electrical testing, and analysis of tissue and cell models to understand how disease starts and progresses. The team aims to find markers that predict who is truly at risk and to test targeted strategies to reduce inflammation, stop myocyte loss, and prevent fibrofatty scarring. Ultimately the work hopes to replace one-size-fits-all rules like strict exercise limits with personalized prevention and treatment plans.
Who could benefit from this research
Good fit: People with known or suspected pathogenic DSP gene variants, especially those with palpitations, documented arrhythmias, abnormal heart imaging, or a family history of sudden cardiac death, would be the best fit.
Not a fit: People without DSP gene changes or with unrelated heart conditions are unlikely to get direct benefit from this project.
Why it matters
Potential benefit: May identify who with DSP mutations needs treatment and lead to therapies that lower arrhythmia risk and delay or prevent heart failure.
How similar studies have performed: Prior work on desmosomal cardiomyopathies has improved genetic diagnosis and imaging detection, but DSP-specific treatments are still relatively new and remain under development.
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.