SPLIS clinical trials at UCSF
2 research studies open to eligible people
SPLIS is a rare genetic disorder affecting the breakdown of certain molecules in the body. UCSF is studying how SPLIS develops over time by observing patients in a long-term study. UCSF is also collecting data from patients worldwide to better understand this condition.
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
open to all eligible people
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…
San Francisco, California
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
open to all eligible people
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…
San Francisco, California
Our lead scientists for SPLIS research studies include Julie D Saba, MD, PhD.
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