🌐 EnglishEN

AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

← Trials
🧪

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

Recruitingn/aAges any - anyAllUniversity of California, San Francisco
NCT04885179 on ClinicalTrials.gov ↗
💬

In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

Sign in
📋 Eligibility rules (as published)
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.
💊

What it tests

  • no intervention
📍

Where

1 site
University of California San Francisco
San Francisco, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
🛡️

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it — not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use · Privacy