Understanding how genetic changes in a heart protein lead to hypertrophic cardiomyopathy.
Official title: Molecular Basis for cMyBP-C HCM variants
Funded at Case Western Reserve University · NIH-11144682 · Data updated 2026-11-12
This study is looking at how certain genetic changes in a heart protein called cMyBP-C can lead to hypertrophic cardiomyopathy (HCM), which affects how well your heart works, to help understand how these changes might impact your health if you have this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project start | June 1, 2025 |
| Project end | March 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $730,764 |
| NIH project number | 1R01HL175803-01A1 |
| Project ID | NIH-11144682 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those with identified mutations in the cMyBP-C gene.
✕Less likely to help
Patients without a diagnosis of hypertrophic cardiomyopathy or those with mutations unrelated to cMyBP-C may not benefit from this research.
What this research studies
This research investigates the genetic mutations in the cardiac myosin binding protein C (cMyBP-C) that contribute to hypertrophic cardiomyopathy (HCM), a condition affecting heart function. By examining how these mutations alter the structure and function of cMyBP-C, the study aims to clarify the relationship between specific genetic variants and the development of HCM. The research employs advanced biophysical techniques to analyze the interactions of cMyBP-C with other proteins in heart muscle cells, which could help predict disease outcomes for patients with these genetic variants.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic counseling and targeted therapies for patients with hypertrophic cardiomyopathy.
How similar studies have gone: Previous research has shown promising results in understanding genetic variants related to cardiac conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Case Western Reserve University
Cleveland, United States Active
Researchers
- Principal investigator: Stelzer, Julian — Case Western Reserve University
- Study coordinator: Stelzer, Julian
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.