Investigating genetic causes and treatments for arrhythmogenic cardiomyopathy
Official title: Pathogenic hotspots illuminate mechanism and therapeutic potential in arrhythmogenic cardiomyopathy
Funded at Stanford University · NIH-11045647 · Data updated 2026-11-12
This study is looking at the genes linked to arrhythmogenic cardiomyopathy (ACM), a heart condition that can be very serious, to find new ways to fix the genetic issues causing it, which could lead to better treatments for patients based on their unique genetic makeup.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project start | April 5, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $675,285 |
| NIH project number | 5R01HL168059-03 |
| Project ID | NIH-11045647 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults diagnosed with arrhythmogenic cardiomyopathy, particularly those with specific genetic mutations in the RBM20 and PKP2 genes.
✕Less likely to help
Patients without arrhythmogenic cardiomyopathy or those with unrelated cardiac conditions may not benefit from this research.
What this research studies
This research focuses on understanding the genetic mechanisms behind arrhythmogenic cardiomyopathy (ACM), a serious heart condition that can lead to sudden cardiac death. By examining specific genetic variants in key genes associated with ACM, the study aims to develop innovative genome engineering strategies that could potentially correct these genetic defects. The approach involves identifying how different genetic mutations affect heart cell function and exploring targeted therapies that could address multiple variants simultaneously. Patients may benefit from advancements in treatment options tailored to their specific genetic profiles.
Why it matters
Potential benefit: If successful, this research could lead to new, effective therapies for patients with arrhythmogenic cardiomyopathy, potentially reducing the risk of sudden cardiac events.
How similar studies have gone: Other research has shown promise in using genome engineering for genetic cardiomyopathies, making this approach both innovative and grounded in prior successes.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Parikh, Victoria — Stanford University
- Study coordinator: Parikh, Victoria
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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.