Condition: Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) · Sponsor: University of California, San Francisco
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.
This description comes directly from the study's public registry record.
Julie D Saba, MD, PhD · 510-414-6317 · Julie.Saba@ucsf.edu
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| University of California San Francisco | San Francisco, California, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06669949