Investigating genetic factors that influence hypertrophic cardiomyopathy
Official title: Risk Alleles in Protein Quality Control Genes as Modifiers of Hypertrophic Cardiomyopathy
Funded at University of Pennsylvania · NIH-11001241 · Data updated 2026-11-12
This study is looking at how certain genes related to heart muscle health might influence the symptoms and severity of hypertrophic cardiomyopathy (HCM), and it invites patients to share their genetic samples to help uncover these connections.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | December 14, 2023 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $650,461 |
| NIH project number | 5R01HL168841-02 |
| Project ID | NIH-11001241 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those experiencing significant symptoms or complications.
✕Less likely to help
Patients with hypertrophic cardiomyopathy who do not have any genetic variants related to the study may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic variants in protein quality control genes affect the severity and symptoms of hypertrophic cardiomyopathy (HCM). By analyzing genetic data from patients and conducting functional studies in human models, the researchers aim to uncover the mechanisms through which these genetic factors modify the disease. The study will explore the roles of genes like BAG3, HSPB7, and DNAJC18, which are linked to the maintenance of heart muscle proteins. Patients may be asked to provide genetic samples and participate in assessments to help identify these risk alleles.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of hypertrophic cardiomyopathy, potentially reducing symptoms and preventing severe complications.
How similar studies have gone: Previous research has shown promising results in understanding genetic modifiers of heart diseases, indicating that this approach could yield valuable insights.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Day, Sharlene M — University of Pennsylvania
- Study coordinator: Day, Sharlene M
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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.