RecruitingNot Applicable

Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

United States28 participantsStarted 2025-04-22

Plain-language 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.

Who can participate

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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.

What they're measuring

Survival

Timeframe: 3 years

Height

Timeframe: 3 years

Weight

Timeframe: 3 years

Head circumference

Timeframe: 3 years

Triceps skin fold measurement

Timeframe: 3 years

Subscapular skin fold measurement

Timeframe: 3 years

Upper arm muscle circumference

Timeframe: 3 years

Sitting height

Timeframe: 3 years

Knee height

Timeframe: 3 years

Trial details

NCT IDNCT06669949

SponsorUniversity of California, San Francisco

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-12-31

Contact for this trial

Julie D Saba, MD, PhD

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

View on ClinicalTrials.gov More Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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.

What they're measuring

Survival

Timeframe: 3 years

Height

Timeframe: 3 years

Weight

Timeframe: 3 years

Head circumference

Timeframe: 3 years

Triceps skin fold measurement

Timeframe: 3 years

Subscapular skin fold measurement

Timeframe: 3 years

Upper arm muscle circumference

Timeframe: 3 years

Sitting height

Timeframe: 3 years

Knee height

Timeframe: 3 years