Using enzyme replacement therapy to treat a rare metabolic disorder in children
Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndrome
This study is looking into a rare and serious condition called sphingosine phosphate lyase insufficiency syndrome (SPLIS) that mainly affects kids, and it aims to find a new treatment using enzyme replacement therapy to help improve their health and quality of life.
Quick facts
| Grant type | R21 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-10938964 on NIH RePORTER |
What this research studies
This research focuses on a rare and often fatal metabolic disorder known as sphingosine phosphate lyase insufficiency syndrome (SPLIS), which primarily affects children. The study aims to develop enzyme replacement therapy as a potential lifesaving treatment for this condition, which leads to severe kidney failure and other serious health issues. Researchers will investigate the underlying biology of SPLIS and explore how restoring the function of a specific enzyme can improve patient outcomes. By leveraging their extensive experience in sphingolipid metabolism, the team hopes to create targeted therapies that could significantly enhance the quality of life for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with sphingosine phosphate lyase insufficiency syndrome.
Not a fit: Patients with other metabolic disorders unrelated to sphingosine phosphate lyase insufficiency syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a new treatment option that may save the lives of children suffering from SPLIS.
How similar studies have performed: While enzyme replacement therapies have shown promise in other metabolic disorders, this specific approach for SPLIS is novel and has not been extensively tested.
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.