Sphingosine Phosphate Lyase Insufficiency Syndrome - Observational Study and Patient Registry (International)
University of California, San Francisco
Summary
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.
Description
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), a condition also known as NPHS14 or familial steroid-resistant nephrotic syndrome with adrenal insufficiency. SPLIS is a recently discovered genetic disease caused by recessive mutations in the SGPL1 gene. SPLIS can have effects on the kidney, adrenal gland, brain, skin, and blood cells. Some patients with SPLIS do not survive beyond infancy, whereas others live to adulthood. By monitoring the natural history of SPLIS over time in affected patients, the investigators will establish a clin…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
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.
Interventions
- Otherno intervention
No interventions are involved in this observational study.
Location
- University of California San FranciscoSan Francisco, California