Investigating how mitochondrial quality control affects heart function in Barth Syndrome
Official title: Understanding Cardiac Mitochondrial Quality Control Through the Lens of Barth Syndrome
Funded at Johns Hopkins University · NIH-11165749 · Data updated 2026-11-12
This study is looking at how a process that helps keep heart cells healthy affects heart function in people with Barth Syndrome, aiming to find out more about the heart problems caused by this condition and how to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | May 1, 2025 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $704,913 |
| NIH project number | 1R01HL175954-01A1 |
| Project ID | NIH-11165749 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Barth Syndrome or those experiencing cardiac dysfunction related to mitochondrial issues.
✕Less likely to help
Patients without mitochondrial disorders or those not affected by cardiac dysfunction may not benefit from this research.
What this research studies
This research focuses on understanding how mitochondrial quality control, specifically through a process called mitophagy, impacts heart function in patients with Barth Syndrome. The study will explore the effects of a genetic deficiency that leads to abnormal mitochondrial behavior in heart cells, which can cause serious cardiac issues. By using advanced techniques, including stem cell-derived heart cells, the researchers aim to uncover the mechanisms behind these cardiac problems and how they can be addressed. This research is particularly relevant for understanding heart health in individuals with Barth Syndrome and similar conditions.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve heart function and overall health for patients with Barth Syndrome and related cardiac disorders.
How similar studies have gone: Previous research has shown promising results in understanding mitochondrial function in cardiac health, making this approach both relevant and potentially impactful.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Vernon, Hilary — Johns Hopkins University
- Study coordinator: Vernon, Hilary
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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.