Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Recruiting now

Conditions studied: Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

In brief

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.

Key facts

Study ID

NCT06669949

Run by

University of California, San Francisco

People needed

28

Starts

2025-04-22

Expected to finish

2030-12-31

Last updated by the study team

2026-08-04

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Potential subjects fulfilling the following criteria will be eligible to participate in this study:
• Living or deceased patients diagnosed with SPLIS based on
• harbor biallelic pathogenic variant (PV) or likely PV (LPV) in the SGPL1 gene, regardless of phenotype OR
• harbor nucleotide changes in both SGPL1 alleles, regardless of variant classification, if they also have one of the following: b1) exhibit at least 1 phenotypic feature of SPLIS (nephrosis, endocrine defect, ichthyosis, neuropathy, male gonadal dysgenesis, lymphopenia) b2) have evidence from biochemical or molecular data (such as enzyme expression or activity in skin fibroblasts) that indicate a possible loss of function in the S1P lyase (SPL) protein b3) are a sibling of a subject with nucleotide changes in both alleles of SGPL1 and at least 1 phenotypic feature of SPLIS
• Informed consent and (if appropriate) assent for living subjects. For deceased subjects, the Principal Investigator (PI) will be responsible for ensuring that all requirements have been met in regard to the relevant local laws and regulations. Parents of participating SPLIS patients may be included as controls.

You may not qualify if…

• Subjects with SPLIS (or their parents) who are currently using or have a history of using an investigational agent in the last 30 days with the exception of off-label use of medications will be excluded from the study

Where it is running

• University of California San Francisco — San Francisco, California, United States (enrolling)

Full record on ClinicalTrials.gov

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