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

University of California, San Francisco · NCT04885179

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
120
US sites recruiting
1
Study start
April 22, 2025
Record last updated
October 24, 2025

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: no intervention

Conditions: Sphingolipidoses; Enzyme Deficiency

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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.

Recruiting US locations

  • University of California San Francisco

    San Francisco, CA 94143

    Site contact: Julie D Saba, MD, PhD · 510-414-6317 · Julie.Saba@ucsf.edu

Study contacts (from the official record)

  • Julie D Saba, MD, PhD · 510-414-6317 · Julie.Saba@ucsf.edu
  • Joanna Y Lee, PhD · 510-590-8292 · Joanna.Lee@ucsf.edu
All healthy volunteers studies in California →
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational… (NCT04885179) | Bored Studies