SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)

Recruiting now

Conditions studied: Sphingolipidoses, Enzyme Deficiency

In brief

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.

Key facts

Study ID
NCT04885179
Run by
University of California, San Francisco
People needed
120
Starts
2025-04-22
Expected to finish
2028-12-30
Last updated by the study team
2025-10-24

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

Where it is running

Full record on ClinicalTrials.gov

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