Understanding familial dilated cardiomyopathy to guide personalized treatments
Unraveling the pathogenesis of familial dilated cardiomyopathy towards precision medicine
This project will try boosting a stress-response protein called ATF4 to improve heart muscle function in people with inherited dilated cardiomyopathy.
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 ID | NIH-11258530 on NIH RePORTER |
What this research studies
Researchers will use stem cells taken from patients to grow heart cells in the lab and see whether increasing ATF4 improves the cells' ability to contract across different genetic causes of DCM. They will study how ATF4 controls one-carbon metabolism, a set of chemical pathways that help heart cells handle stress. The team will deliver ATF4 to the heart using an AAV gene-delivery method in animal models to test whether it can halt or reverse disease progression. If the lab and animal results are promising, the approach could move toward a mutation-agnostic gene therapy and future human trials.
Who could benefit from this research
Good fit: Ideal candidates are people with familial or genetically confirmed dilated cardiomyopathy who could donate blood or skin for cell-based studies or join future clinical trials.
Not a fit: People without dilated cardiomyopathy, those with non-genetic causes of heart failure, or patients with end-stage disease needing transplant may not benefit from this early-stage work.
Why it matters
Potential benefit: If successful, this work could lead to a new gene-based therapy that helps prevent or reverse heart muscle weakening across many genetic forms of DCM.
How similar studies have performed: AAV gene-delivery has shown promise in some cardiac conditions, but targeting ATF4 as a mutation-agnostic therapy for DCM is largely novel and currently at the preclinical stage.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Karakikes, Ioannis — Stanford University
- Study coordinator: Karakikes, Ioannis
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.