Finding new treatments for Smith-Lemli-Opitz syndrome by using existing medications
Reversing disrupted developmental sterol biosynthesis by prescription medications
['FUNDING_OTHER'] · UNIVERSITY OF NEBRASKA MEDICAL CENTER · NIH-11137179
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
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF NEBRASKA MEDICAL CENTER (nih funded) |
| Locations | 1 site (OMAHA, UNITED STATES) |
| Trial ID | NIH-11137179 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Smith-Lemli-Opitz syndrome who may benefit from new treatment strategies targeting 7-DHC levels.
Not a fit: Patients without a diagnosis of Smith-Lemli-Opitz syndrome or those whose condition is unrelated to cholesterol biosynthesis may not benefit from this research.
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 performed: 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
OMAHA, UNITED STATES
- 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 below.
Conditions: Autistic Disorder