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Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

NCT06669949 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 28

Last updated 2025-05-13

No results posted yet for this study

Summary

This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized inborn error of metabolism. The central hypothesis is that age of onset, other disease features, and disease biomarkers will be predictive of quality of life (QOL) and survival in SPLIS patients.

Conditions

  • Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

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
No

Timeline & Regulatory

Start
2025-04-22
Primary Completion
2030-12-31
Completion
2030-12-31

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 NCT06669949 on ClinicalTrials.gov