Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Conditions

• Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

• no intervention — OTHER
  No interventions are involved in this observational study.

Study Details

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 Dates

Start date

Apr 22, 2025

Status verified

May 2025

Primary completion

Dec 31, 2030

Completion

Dec 31, 2030

Study Design

Enrollment

28 participants (estimated)

Arms

• Arm: Individuals with sphingosine phosphate lyase insufficiency syndrome
  Individuals diagnosed with sphingosine phosphate lyase insufficiency syndrome based on genetic testing that confirms bi-allelic pathogenic variants in the SGPL1 gene
• Arm: Parents of individuals with sphingosine phosphate lyase insufficiency syndrome
  Parents of individuals diagnosed with sphingosine phosphate lyase insufficiency syndrome based on genetic testing that confirms bi-allelic pathogenic variants in the SGPL1 gene
• Arm: age and gender-matched controls
  The investigators will attempt to collect biological specimens from individuals closely matched to SPLIS patient cohort by age and gender. This group may include siblings, cousins, and unrelated healthy children and adults.

Primary Outcome Measure

Survival [ Time Frame: 3 years ]

Central Contacts

• Julie D Saba, MD, PhD
  510-414-6317
  [email protected]

Locations (1)

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