Status:
RECRUITING
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
Lead Sponsor:
University of California, San Francisco
Conditions:
Sphingolipidoses
Enzyme Deficiency
Eligibility:
All Genders
Brief Summary
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 a...
Detailed Description
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), a condition also known as NPHS14 or familial steroid-resistant nephrotic syndrome with adrena...
Eligibility Criteria
Inclusion
- Individuals of all ages diagnosed with SPLIS based on bi-allelic pathogenic variants of SGPL1, including children and neonates, as well as family members or caregivers, healthy volunteers and individuals with other sphingolipidoses.
Exclusion
- the investigators will not include:
- prisoners
- pregnant women
- healthy volunteers with:
- diabetes,
- infection,
- fever,
- known HIV/AIDS,
- cardiac disease
- or anemia.
Key Trial Info
Start Date :
April 22 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 30 2028
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT04885179
Start Date
April 22 2025
End Date
December 30 2028
Last Update
October 24 2025
Active Locations (1)
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1
University of California San Francisco
San Francisco, California, United States, 94143