Observational study and patient registry for SPL Insufficiency Syndrome
Sphingosine Phosphate Lyase Insufficiency Syndrome - Observational Study and Patient Registry (International)
This study is collecting health information and samples from people with sphingosine phosphate lyase insufficiency syndrome to better understand how the disease progresses and how certain genetic changes might affect their health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 120 (estimated) |
| Sex | All |
| Sponsor | University of California, San Francisco Academic / other |
| Locations | 1 site (San Francisco, California) |
| Trial ID | NCT04885179 on ClinicalTrials.gov |
What this trial studies
This study aims to collect comprehensive data on sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, by establishing a patient registry. It will gather medical records, genetic information, and biological samples such as blood and urine from individuals diagnosed with SPLIS. The study will monitor the natural history of the disease over time, aiming to identify correlations between specific SGPL1 mutations and patient outcomes. No treatment is administered; instead, the focus is on understanding the disease's progression and the potential impact of vitamin B6 supplementation.
Who should consider this trial
Good fit: Ideal candidates include individuals of all ages diagnosed with SPLIS and their family members, as well as healthy volunteers and those with other sphingolipidoses.
Not a fit: Patients who are pregnant, prisoners, or have certain health conditions such as diabetes or cardiac disease may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of SPLIS and inform future treatment strategies.
How similar studies have performed: While this study focuses on a specific genetic condition, similar observational studies have successfully characterized other rare diseases, suggesting potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
San Francisco, California
- University of California San Francisco — San Francisco, California, United States (Recruiting)
Study contacts
- Principal investigator: Julie D Saba, MD, PhD — University of California, San Francisco
- Study coordinator: Julie D Saba, MD, PhD
- Email: Julie.Saba@ucsf.edu
- Phone: 510-414-6317
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.