SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
NCT04885179
This study is recruiting at 1 US site in 1 state, according to its ClinicalTrials.gov record last updated .
Summary
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.
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Sphingolipidoses
- Enzyme Deficiency
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- Any age
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- University of California, San Francisco
- Last updated on ClinicalTrials.gov
- October 24, 2025
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
California · 1
- University of California San Francisco · San Francisco, CA
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.