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

Sphingosine Phosphate Lyase Insufficiency Syndrome - Observational Study and Patient Registry (International)

Who can join

All ages · All sexes · Healthy volunteers welcome

Inclusion Criteria: Individuals of all ages diagnosed with SPLIS based on bi-allelic pathogenic variants of SGPL1, including children and neonates, as well as family members or caregivers, healthy volunteers and individuals with other sphingolipidoses.

Exclusion Criteria: the investigators will not include:

* prisoners
* pregnant women
* healthy volunteers with:

  * diabetes,
  * infection,
  * fever,
  * known HIV/AIDS,
  * cardiac disease
  * or anemia.

About the study

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.

What is being tested

• no intervention (other)

Sponsor: University of California, San Francisco · Participants: 120 · Started: Apr 22, 2025

Contact the study team

• Julie D Saba, MD, PhD · Phone: 510-414-6317
• Joanna Y Lee, PhD · Phone: 510-590-8292

Official record on ClinicalTrials.gov — NCT04885179

Locations in the U.S.

Conditions

• Nephrotic Syndrome

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.