Sphingolipidoses clinical trials at UCSF

1 research study open to eligible people

Sphingolipidoses are inherited disorders that disrupt fat processing in the body. UCSF is gathering information on SPLIS through an international patient registry. The study collects data to better understand this rare condition.

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  • 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

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