Investigating biomarkers for a rare metabolic syndrome related to sphingosine phosphate lyase insufficiency.
Validating absolute lymphocyte count and plasma sphingosine-1-phosphate as disease biomarkers of sphingosine phosphate lyase insufficiency syndrome in anticipation of a pyridoxine clinical trial
This study is looking for certain markers in the blood that could help identify a rare condition called sphingosine phosphate lyase insufficiency syndrome (SPLIS), and it aims to prepare for a future trial testing vitamin B6 as a treatment for people with this condition.
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-10705139 on NIH RePORTER |
What this research studies
This research focuses on identifying specific biomarkers, namely absolute lymphocyte count and plasma sphingosine-1-phosphate, that could indicate the presence of sphingosine phosphate lyase insufficiency syndrome (SPLIS). The study aims to validate these biomarkers in preparation for a clinical trial involving vitamin B6 treatment. By analyzing blood samples from affected individuals, researchers hope to better understand the disease's progression and response to potential therapies. This work is crucial for developing effective treatments for patients suffering from this severe condition.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with sphingosine phosphate lyase insufficiency syndrome or those exhibiting symptoms related to this condition.
Not a fit: Patients without a diagnosis of sphingosine phosphate lyase insufficiency syndrome or those who do not exhibit relevant symptoms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and targeted therapies for patients with sphingosine phosphate lyase insufficiency syndrome.
How similar studies have performed: While the specific approach of validating these biomarkers is novel, similar research has shown promise in identifying biomarkers for other metabolic disorders.
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.