Actively Recruiting
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Led by University of California, San Francisco · Updated on 2025-05-13
28
Participants Needed
1
Research Sites
297 weeks
Total Duration
On this page
Sponsors
U
University of California, San Francisco
Lead Sponsor
E
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized inborn error of metabolism. The central hypothesis is that age of onset, other disease features, and disease biomarkers will be predictive of quality of life (QOL) and survival in SPLIS patients.
CONDITIONS
Official Title
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with SPLIS by genetic testing showing biallelic pathogenic or likely pathogenic variants in SGPL1 gene
- Or have nucleotide changes in both SGPL1 alleles with at least one SPLIS feature or biochemical evidence of SPL protein loss of function
- Or are a sibling of an SPLIS patient with genetic changes in both alleles and at least one SPLIS feature
- Living or deceased patients with SPLIS
- Parents of SPLIS patients may be included as controls
- Provide informed consent or assent if living; PI ensures legal compliance for deceased participants
You will not qualify if you...
- Currently using or have used investigational agents in the last 30 days, except off-label medication use
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of California San Francisco
San Francisco, California, United States, 94143
Actively Recruiting
Research Team
J
Julie D Saba, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here