Investigating how a gene affects sleep and behavior in Smith-Kingsmore Syndrome
Role of mTOR in Circadian and Sleep Deregulation in Smith-Kingsmore Syndrome (SKS)
['FUNDING_R01'] · UNIVERSITY OF FLORIDA · NIH-10997377
This study is looking at how a genetic condition called Smith-Kingsmore Syndrome affects sleep and behavior, and it's for people with this syndrome to help find better ways to manage those challenges.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF FLORIDA (nih funded) |
| Locations | 1 site (GAINESVILLE, UNITED STATES) |
| Trial ID | NIH-10997377 on ClinicalTrials.gov |
What this research studies
This research focuses on Smith-Kingsmore Syndrome (SKS), a genetic disorder linked to mutations in the mTOR gene, which plays a crucial role in regulating brain function and sleep patterns. The study aims to understand how disruptions in the mTOR pathway contribute to sleep disturbances and behavioral issues in SKS patients. By creating cellular and mouse models of SKS, researchers will explore the mechanisms behind these symptoms and their impact on overall health. The findings could lead to better management strategies for sleep and behavioral challenges faced by individuals with SKS.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Smith-Kingsmore Syndrome, particularly those experiencing sleep and behavioral challenges.
Not a fit: Patients without a diagnosis of Smith-Kingsmore Syndrome or those not experiencing significant sleep or behavioral issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for sleep disturbances and behavioral issues in patients with Smith-Kingsmore Syndrome.
How similar studies have performed: Previous research on the mTOR pathway has shown promise in understanding related conditions, suggesting that this approach may yield valuable insights for SKS.
Where this research is happening
GAINESVILLE, UNITED STATES
- UNIVERSITY OF FLORIDA — GAINESVILLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIU, ANDREW C. — UNIVERSITY OF FLORIDA
- Study coordinator: LIU, ANDREW C.
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: autism spectral disorder, autism spectrum disorder