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

NCT04885179 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 120

Last updated 2025-10-24

No results posted yet for this study

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

Interventions

OTHER

no intervention

No interventions are involved in this observational study.

Sponsors & Collaborators

Principal Investigators

  • Julie D Saba, MD, PhD · University of California, San Francisco

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-04-22
Primary Completion
2026-12-30
Completion
2028-12-30

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04885179 on ClinicalTrials.gov