New treatments for Timothy syndrome and related heart conditions
Official title: Novel Therapeutics for Timothy Syndrome and Related Cardiac Channelopathy
Funded at Icahn School of Medicine at Mount Sinai · NIH-11094871 · Data updated 2026-11-12
This study is working on new medicines that help improve heart function for people with Timothy syndrome, a genetic condition that causes heart rhythm problems, and it might also help others with similar heart issues, so patients could have a chance to try these exciting new treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 1, 2023 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $635,816 |
| NIH project number | 5R01HL166384-04 |
| Project ID | NIH-11094871 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Timothy syndrome or other forms of genetic long QT syndrome.
✕Less likely to help
Patients with non-genetic forms of arrhythmias or those without a diagnosis of long QT syndrome may not benefit from this research.
What this research studies
This research focuses on developing new small molecules that activate the Sigma 1 receptor to treat Timothy syndrome, a genetic condition that causes severe heart arrhythmias. Using human induced pluripotent stem cells and mouse models, the team aims to create more effective drugs that can improve heart function and reduce arrhythmia symptoms. The study will also explore whether these new treatments can be beneficial for other types of genetic long QT syndrome. Patients may have the opportunity to participate in trials that test these innovative therapies.
Why it matters
Potential benefit: If successful, this research could lead to new, effective treatments for patients suffering from Timothy syndrome and other related cardiac conditions.
How similar studies have gone: Previous research has shown promise in using Sigma 1 receptor agonists for similar cardiac conditions, indicating a potential for success in this novel approach.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Yazawa, Masayuki — Icahn School of Medicine at Mount Sinai
- Study coordinator: Yazawa, Masayuki
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.