Actively Recruiting
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
Led by University of California, San Francisco · Updated on 2025-10-24
120
Participants Needed
1
Research Sites
192 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry. Medical records, radiological and pathology results, blood test results, and genetic information will be collected. Samples of blood, cheek cells, urine and stool may be collected for analysis. If a skin biopsy has been performed for medical care, cells from the biopsy may be analyzed. No treatment or other intervention is involved in this study. However, the effect of treatments administered by the patient's physician may be detected and monitored based on changes in the blood or urine.
CONDITIONS
Official Title
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals of any age diagnosed with SPLIS based on bi-allelic pathogenic variants of SGPL1
- Children and neonates with SPLIS
- Family members or caregivers of individuals with SPLIS
- Healthy volunteers
- Individuals with other sphingolipidoses
You will not qualify if you...
- Prisoners
- Pregnant women
- Healthy volunteers with diabetes
- Healthy volunteers with infection
- Healthy volunteers with fever
- Healthy volunteers with known HIV/AIDS
- Healthy volunteers with cardiac disease
- Healthy volunteers with anemia
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
J
Joanna Y Lee, 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
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