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RECRUITINGOBSERVATIONAL

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

Sphingosine Phosphate Lyase Insufficiency Syndrome - Observational Study and Patient Registry (International)

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: Individuals of all ages diagnosed with SPLIS based on bi-allelic pathogenic variants of SGPL1, including children and neonates, as well as family members or caregivers, healthy volunteers and individuals with other sphingolipidoses. Who Should NOT Join This Trial: the investigators will not include: - prisoners - pregnant women - healthy volunteers with: - diabetes, - infection, - fever, - known HIV/AIDS, - cardiac disease - or anemia. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria: Individuals of all ages diagnosed with SPLIS based on bi-allelic pathogenic variants of SGPL1, including children and neonates, as well as family members or caregivers, healthy volunteers and individuals with other sphingolipidoses. Exclusion Criteria: the investigators will not include: * prisoners * pregnant women * healthy volunteers with: * diabetes, * infection, * fever, * known HIV/AIDS, * cardiac disease * or anemia.

Treatments Being Tested

OTHER

no intervention

No interventions are involved in this observational study.

Locations (1)

University of California San Francisco
San Francisco, California, United States