SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)

Conditions

• Enzyme Deficiency
• Sphingolipidoses

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Accepted

Interventions

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

Study Details

This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry. Medical records, radiological and pathology results, blood test results, and genetic information will be collected. Samples of blood, cheek cells, urine and stool may be collected for analysis. If a skin biopsy has been performed for medical care, cells from the biopsy may be analyzed. No treatment or other intervention is involved in this study. However, the effect of treatments administered by the patient's physician may be detected and monitored based on changes in the blood or urine.

Key Dates

Start date

Apr 22, 2025

Status verified

Oct 2025

Primary completion

Dec 30, 2026

Completion

Dec 30, 2028

Study Design

Enrollment

120 participants (estimated)

Arms

• Arm: Individuals with SPLIS
  Individuals diagnosed with SPLIS based on genetic testing that confirms bi-allelic pathogenic variants in SGPL1
• Arm: Parents of individuals with SPLIS
  Parents of individuals diagnosed with SPLIS based on genetic testing that confirms bi-allelic pathogenic variants in SGPL1
• 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: 0-99 years ]

Central Contacts

• Julie D Saba, MD, PhD
  510-414-6317
  [email protected]
• Joanna Y Lee, PhD
  510-590-8292
  [email protected]

Locations (1)

Find similar trials in San Francisco, CA