Investigating a protein's role in Salla disease and its symptoms
Official title: Phenotypic Analysis of SLC17A5 Neuromodulation in Salla Disease
Funded at University of Alabama in Tuscaloosa · NIH-10807837 · Data updated 2026-11-12
This study is looking at how changes in the SLC17A5 gene affect the development of Salla disease, which can cause problems like seizures and trouble with movement, using tiny worms to help understand the disease better.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama in Tuscaloosa NIH-funded |
| Lab location | 1 site (Tuscaloosa, United States) |
| Project start | January 1, 2024 |
| Project end | December 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $149,000 |
| NIH project number | 1R03NS135559-01 |
| Project ID | NIH-10807837 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults diagnosed with Salla disease or related neurodegenerative disorders.
✕Less likely to help
Patients with other forms of neurodegenerative diseases not related to SLC17A5 mutations may not benefit from this research.
What this research studies
This research focuses on the SLC17A5 gene, which is crucial for transporting certain sugars in neurons. It aims to understand how mutations in this gene lead to Salla disease, a rare neurodegenerative disorder that can cause symptoms like epilepsy and coordination issues. By using a model organism called Caenorhabditis elegans, researchers will study the effects of these mutations and how they contribute to the disease's progression. This approach allows for the examination of the disease without the early lethality seen in other models.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for Salla disease and related neurodegenerative conditions.
How similar studies have gone: While research on SLC17A5 is limited, similar studies on other rare genetic disorders have shown promise in understanding disease mechanisms and developing treatments.
Where this research is happening
-
University of Alabama in Tuscaloosa
Tuscaloosa, United States Active
Researchers
- Principal investigator: Caldwell, Guy a — University of Alabama in Tuscaloosa
- Study coordinator: Caldwell, Guy a
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.