Studies from University of California Further Understanding of Gene Therapy (Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients).

A recent study conducted at the University of California focused on sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS), a metabolic disorder associated with various symptoms including nephrotic syndrome, adrenal insufficiency, and neurological and skin manifestations. The study aimed to identify factors that influence survival in SPLIS patients. The research found that overall survival was 50%, with age and organ involvement at first presentation, kidney transplantation, and SGPL1 genotype being major influences on survival. The study also revealed that patients diagnosed with SPLIS nephropathy in the first year of life and those with the R222Q SGPL1 variant had higher risks, while kidney transplantation significantly extended survival outcomes. [Extracted from the article]