SPLIS clinical trials at UCSF

2 research studies open to eligible people

SPLIS is a genetic condition that causes problems in an enzyme called sphingosine phosphate lyase. At UCSF, researchers are studying how SPLIS develops over time by observing patients' health changes. Additionally, UCSF is collecting international patient data to better understand this syndrome.

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  • 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 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.

    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 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.

    San Francisco, California

Our lead scientists for SPLIS research studies include .

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