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NCT04885179 · ClinicalTrials.gov registry record
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
A clinical trial of Sphingolipidoses and Enzyme Deficiency, sponsored by University of California, San Francisco.
- Recruiting
- Registry status
- 120
- Enrollment target
- 1
- Study location
NCT04885179 is a study of Sphingolipidoses and Enzyme Deficiency that is actively recruiting participants, run by University of California, San Francisco. The registered enrollment target is 120 participants. The trial reports 1 study location across 1 state.
The verdict
NCT04885179, a study of Sphingolipidoses and Enzyme Deficiency, is actively recruiting participants, sponsored by University of California, San Francisco.
- RECRUITING
- Registry status
- 120 participants
- Enrollment target
- 1
- Study location
Study 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.
Conditions Studied
Interventions
- OTHER no intervention
Study Locations (1)
California
- University of California San Francisco - San Francisco
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 120 participants |
| Start Date | 2025-04-22 |
| Est. Completion | 2028-12-30 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04885179
The ClinicalTrials.gov registry entry for NCT04885179 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 120 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is University of California, San Francisco, which has 1,713 total studies on file at ClinicalTrials.gov.
The record links to 2 conditions, with Sphingolipidoses appearing as the primary indexed condition, and to 1 intervention - of which no intervention is the first listed.
NCT04885179 reports 1 study location spanning 1 distinct geographic area - top geographies include California.
Frequently Asked Questions
What is clinical trial NCT04885179 about?
NCT04885179 is a clinical study titled "SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)". 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 bloo...
What is the current status of trial NCT04885179?
This trial is currently recruiting. The enrollment target is 120 participants. The study started on 2025-04-22. Estimated completion is 2028-12-30.
What conditions does trial NCT04885179 study?
This clinical trial studies the following conditions: Sphingolipidoses, Enzyme Deficiency.
What interventions are being tested in trial NCT04885179?
The interventions under investigation include: no intervention (OTHER).
Who is sponsoring clinical trial NCT04885179?
This trial is sponsored by University of California, San Francisco, which has 1,713 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT04885179 being conducted?
This trial has 1 study location across California. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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