Understanding how SPLIS (sphingosine-1-phosphate lyase insufficiency) affects children over time
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 project will follow children with SPLIS to map how the disease changes over time and help enable targeted treatments like vitamin B6 or gene therapy.
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-11187006 on NIH RePORTER |
What this research studies
If your child joins, researchers will collect medical histories, blood and urine samples, and genetic information to chart how SPLIS develops and affects organs such as the kidneys and adrenal glands. The team will look for biological markers that signal disease worsening and link specific SGPL1 mutations to symptoms. Information and samples will be organized to support future clinical trials of vitamin B6 supplementation for some patients and adeno-associated virus (AAV) gene therapy being developed in the lab. The effort aims to make it easier to diagnose SPLIS earlier, monitor progression, and match children to the right therapies.
Who could benefit from this research
Good fit: Children (including newborns and infants) with confirmed or suspected SPLIS due to SGPL1 mutations are the primary candidates for participation.
Not a fit: People who do not have SPLIS (no SGPL1 mutation) or who cannot provide medical records or biological samples are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could enable earlier diagnosis, better monitoring, and pave the way for targeted treatments that may slow or cure SPLIS.
How similar studies have performed: Animal (mouse) studies show promising proof-of-concept for AAV SGPL1 gene therapy and some children with milder disease have improved with vitamin B6, but human clinical trials are only beginning.
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.