Understanding how SPLIS affects children over time to guide targeted cures
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 follows children with SPLIS to learn how the disease develops and to find tests and treatments that could help them.
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-11379003 on NIH RePORTER |
What this research studies
Researchers will collect medical histories, clinical information, and blood and tissue samples from infants and children with SPLIS and follow their symptoms and lab results over time. The team will search for biological markers in blood and other samples that track disease activity and treatment response. Patient findings will be connected to laboratory results, including prior gene therapy work in mice, to prioritize promising therapies. The data will be used to prepare safe, targeted treatment approaches such as vitamin B6 supplementation or SGPL1 gene therapy for clinical testing.
Who could benefit from this research
Good fit: Children and infants diagnosed with or suspected to have SPLIS (SGPL1 mutations), especially those with nephrotic syndrome, adrenal insufficiency, immune problems, or neurological signs, are ideal candidates.
Not a fit: People without SPLIS or those with unrelated kidney or adrenal disorders are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could improve monitoring and diagnosis for SPLIS, identify children likely to respond to vitamin B6, and enable curative gene therapy trials.
How similar studies have performed: Some children with milder SPLIS have improved with vitamin B6 and mouse studies show that AAV-based SGPL1 gene therapy can correct disease features, but human trials have not yet been completed.
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.