Apply to trial NCT04885179

A few quick questions so the study team can decide if you might be a fit.

RecruitingClinical trial

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 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.

How this works

  1. Answer a few questions

    About 5 to 10 minutes. Skip-friendly where possible.

  2. We forward your profile to the study team

    They see only the answers needed to decide if you can be screened.

  3. The team reaches out to schedule screening

    Usually within a few business days, via the contact you give.

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