Targeting a specific enzyme to improve treatment for Barth syndrome
Official title: Selective inhibitors of MLCL/CytC Peroxidase in Barth Syndrome
Funded at University of Pittsburgh at Pittsburgh · NIH-10941029 · Data updated 2026-11-12
This study is looking at new ways to help people with Barth syndrome by testing special medicines that might improve heart and muscle health, and patients with Barth syndrome can join in to see if these treatments work.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $733,848 |
| NIH project number | 1R01HL174611-01 |
| Project ID | NIH-10941029 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Barth syndrome, particularly those experiencing symptoms related to cardiac and skeletal myopathy.
✕Less likely to help
Patients without Barth syndrome or those with unrelated mitochondrial disorders may not benefit from this research.
What this research studies
This research focuses on Barth syndrome, a genetic disorder that affects heart and muscle function, leading to serious health issues. The study aims to investigate selective inhibitors of a specific enzyme involved in the disease's pathology, which could help in understanding and potentially treating the condition. By exploring the biochemical processes related to mitochondrial dysfunction and lipid remodeling, the research seeks to uncover new therapeutic strategies. Patients with Barth syndrome may have the opportunity to participate in clinical trials that evaluate these new treatment options.
Why it matters
Potential benefit: If successful, this research could lead to more effective therapies for patients with Barth syndrome, improving their quality of life and potentially reducing premature mortality.
How similar studies have gone: While previous trials for other drugs in Barth syndrome have not shown success, this approach targeting specific biochemical mechanisms is novel and could provide new insights.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Kagan, Valerian E — University of Pittsburgh at Pittsburgh
- Study coordinator: Kagan, Valerian E
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.