Understanding a rare genetic disorder that affects children's metabolism.
Characterizing the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS): a fundamental step in the development of a targeted cure for this novel atypical sphingolipidosis
This study is looking into a rare condition called sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) in children, aiming to learn more about how the disease progresses and to find new ways to help kids with it, including possible gene therapies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10781687 on NIH RePORTER |
What this research studies
This research focuses on sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS), a rare and severe metabolic disorder in children. It aims to characterize the natural history of the disease, which can lead to kidney failure and other serious health issues. The study involves developing biomarkers and exploring potential gene therapies, including the use of adeno-associated viruses to deliver corrective genes. By understanding the disease better, the research seeks to pave the way for targeted treatments that could improve outcomes for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with sphingosine-1-phosphate lyase insufficiency syndrome.
Not a fit: Patients with other metabolic disorders unrelated to SPLIS may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments or even a cure for children suffering from SPLIS.
How similar studies have performed: Previous research has shown promise in developing gene therapies for similar metabolic disorders, indicating potential success for this approach.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Saba, Julie D — University of California, San Francisco
- Study coordinator: Saba, Julie D
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.