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
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11193732
This study is looking into a rare condition called sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) in children, aiming to understand how it affects their health and explore new treatments like gene therapy and vitamin B6 to help improve their lives.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11193732 on ClinicalTrials.gov |
What this research studies
This research focuses on sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS), a rare and severe metabolic disorder in children. The study aims to characterize the natural history of SPLIS, which can lead to kidney failure and other serious health issues. Researchers will investigate the genetic causes and potential treatments, including gene therapy and vitamin B6 supplementation, to improve outcomes for affected children. By developing biomarkers and understanding the disease better, the research seeks to pave the way for targeted therapies.
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 for success in this area.
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.