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RECRUITING

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

NCT04885179 · View on ClinicalTrials.gov ↗

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.

Interventions

  • OTHER no intervention

Study Locations (1)

California

  • University of California San Francisco — San Francisco

Trial Details

FieldValue
Enrollment Target 120 participants
Start Date 2025-04-22
Est. Completion 2028-12-30

Sponsor

University of California, San Francis

1,574 total trials

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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. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. 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 Francis, which has 1,574 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.

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. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.

Geographic footprint matters for practical reasons: NCT04885179 reports 1 study location spanning 1 distinct geographic area — top geographies include California. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.

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. These conditions were identified from the trial registry and reflect the primary focus areas of the research.

What interventions are being tested in trial NCT04885179?

The interventions under investigation include: no intervention (OTHER). Each intervention is being evaluated for safety and efficacy as part of this clinical study.

Who is sponsoring clinical trial NCT04885179?

This trial is sponsored by University of California, San Francis, which has 1,574 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.

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.

Related

Data sourced from official U.S. government datasets. See our methodology for details. Retrieved and formatted by PlainTrial Editorial