Finding new treatments for Smith-Lemli-Opitz syndrome by using existing medications
Official title: Reversing disrupted developmental sterol biosynthesis by prescription medications
Funded at University of Nebraska Medical Center · NIH-11137179 · Data updated 2026-11-12
This study is looking at how certain medications might help lower harmful cholesterol levels in people with Smith-Lemli-Opitz syndrome, and it aims to find new treatment options that could improve their health.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Nebraska Medical Center NIH-funded |
| Lab location | 1 site (Omaha, United States) |
| Project start | September 1, 2024 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $230,250 |
| NIH project number | 1R56HD111119-01A1 |
| Project ID | NIH-11137179 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Smith-Lemli-Opitz syndrome who may benefit from new treatment strategies targeting 7-DHC levels.
✕Less likely to help
Patients without a diagnosis of Smith-Lemli-Opitz syndrome or those whose condition is unrelated to cholesterol biosynthesis may not benefit from this research.
What this research studies
This research investigates how certain prescription medications can help reduce toxic levels of 7-dehydrocholesterol (7-DHC) in patients with Smith-Lemli-Opitz syndrome (SLOS), a developmental disorder caused by mutations in the DHCR7 gene. The study involves screening a variety of compounds that have previously been used in clinical trials to identify those that can effectively lower 7-DHC levels while preserving some cholesterol production. The researchers will test the most promising medications, including ziprasidone, valproic acid, and hydroxyzine, in both laboratory cell models and animal models to assess their effectiveness in improving the condition. If successful, this approach could lead to new treatment options for patients suffering from SLOS.
Why it matters
Potential benefit: If successful, this research could provide new therapeutic options that improve neurological function and overall health for patients with Smith-Lemli-Opitz syndrome.
How similar studies have gone: Previous research has shown promise in using existing medications to target metabolic pathways, suggesting that this approach may yield beneficial results for SLOS.
Where this research is happening
-
University of Nebraska Medical Center
Omaha, United States Active
Researchers
- Principal investigator: Mirnics, Karoly — University of Nebraska Medical Center
- Study coordinator: Mirnics, Karoly
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.