Recruiting

Observational Study

Sponsor:

UCLA

Code:

NCT04885179

Conditions

Sphingolipidoses

Enzyme Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

no intervention

Study Details

Brief 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. However, the effect of treatments administered by the patient's physician may be detected and monitored based on changes in the blood or urine.

Conditions

Sphingolipidoses

Enzyme Deficiency

Study ID

NCT04885179

Start date

Apr 22, 2025

Status verified date

Oct, 2025

Completion date

Dec 30, 2028

Anticipated

Primary completion date

Dec 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

120 participants

Anticipated

Interventions and Outcome Measures

Arms

Individuals with SPLIS

Individuals diagnosed with SPLIS based on genetic testing that confirms bi-allelic pathogenic variants in SGPL1

Parents of individuals with SPLIS

Parents of individuals diagnosed with SPLIS based on genetic testing that confirms bi-allelic pathogenic variants in SGPL1

age and gender-matched controls

The investigators will attempt to collect biological specimens from individuals closely matched to SPLIS patient cohort by age and gender. This group may include siblings, cousins, and unrelated healthy children and adults.

Interventions

no intervention

No interventions are involved in this observational study.

Primary outcome measure

  • Survival [ Time Frame: 0-99 years ]

Central Contacts and Locations

Central contacts

Julie D Saba, MD, PhD

510-414-6317Julie.Saba@ucsf.edu

Joanna Y Lee, PhD

510-590-8292Joanna.Lee@ucsf.edu

Locations

University of California San Francisco

Recruiting

San Francisco, California, United States, 94143

Contacts

Julie D Saba, MD, PhD

510-414-6317Julie.Saba@ucsf.edu

Joanna Y Lee, PhD

510-590-8292Joanna.Lee@ucsf.edu

More Information

Sponsor

University of California, San Francisco

Last update posted

Oct 24, 2025

Last verified

Oct, 2025

Keywords

  • SPLIS
  • sphingosine phosphate lyase
  • SGPL1
  • sphingolipidosis
  • steroid-resistant nephrotic syndrome
  • primary adrenal insufficiency
  • neurological defect

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, San Francisco on 2025-10-24.