NCT06669949

Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Natural History and Phenotypic Spectrum of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 28 (estimated)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed description

The main purpose of the study is to characterize the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS) including the full spectrum of presentations (clinical, biochemical, radiological and pathological) and their change (progression or improvement) over time by collecting and analyzing data from prospective assessments on patients with SPLIS over a three-year time period and retrospective chart review of treatment history. By necessity, the investigators will also endeavor to explore the range of medical treatments and interventions currently being used in the care of SPLIS patients and their impact on the natural history of SPLIS. A retrospective arm will collect data on patients who are deceased and/or who are willing to share medical data but unwilling to participate in the prospective arm of the study. The secondary objective of the study is to establish a set of biomarkers including plasma sphingosine-1-phosphate (S1P) and absolute lymphocyte count (ALC) that may aid in: * Characterizing distinct phenotypic subgroups of SPLIS patients within the larger SPLIS population * Predicting the change (progression or improvement) in symptoms of SPLIS patients over time The exploratory objectives of the study are to explore the potential of plasma sphingolipids other than S1P, urinary sphingolipids including S1P, and immunological markers including cytokines and T cell subsets to serve as disease biomarkers. A SPLIS multi-domain responder index (MDRI) will be developed. Induced pluripotent stem cells derived from peripheral blood mononuclear cells and/or skin fibroblasts will be generated as a research tool.

Conditions

• Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Interventions

Type	Name	Description
OTHER	no intervention	No interventions are involved in this observational study.

Timeline

• Start date: 2025-04-22
• Primary completion: 2030-12-31
• Completion: 2030-12-31
• First posted: 2024-11-01
• Last updated: 2025-05-13

Locations

1 site across 1 country: United States