Enzyme Deficiency clinical trials at UCSF

1 research study open to eligible people

Enzyme deficiency means the body does not have enough of certain proteins to function properly. UCSF is studying sphingosine phosphate lyase insufficiency syndrome by observing patients to collect important health data. This research helps us understand how this rare condition affects people.

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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

Our lead scientists for Enzyme Deficiency research studies include .

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