Understanding the natural history of Sphingosine Phosphate Lyase Insufficiency Syndrome
Natural History and Phenotypic Spectrum of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
This study looks at how Sphingosine Phosphate Lyase Insufficiency Syndrome affects patients over time and tries to find patterns and markers that could help predict their health outcomes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 28 (estimated) |
| Sex | All |
| Sponsor | University of California, San Francisco Academic / other |
| Locations | 1 site (San Francisco, California) |
| Trial ID | NCT06669949 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the natural history of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) by collecting and analyzing data from patients over a three-year period. It includes both prospective assessments and a retrospective review of treatment histories to understand disease progression and the impact of various medical interventions. The study also seeks to identify biomarkers that could help predict patient outcomes and categorize distinct phenotypic subgroups within the SPLIS population.
Who should consider this trial
Good fit: Ideal candidates for this study are patients diagnosed with SPLIS based on genetic criteria, including both living and deceased individuals.
Not a fit: Patients without a confirmed genetic diagnosis of SPLIS or those who do not meet the inclusion criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression and management of SPLIS, potentially improving patient quality of life and survival rates.
How similar studies have performed: While this study focuses on a recently recognized condition, similar observational studies have successfully characterized the natural history of other rare metabolic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
All identified patients with SPLIS diagnosed by genetic criteria are eligible for enrollment in this study, regardless of baseline demographic, biochemical or metabolic features and regardless of interventions such as vitamin B6 supplementation, dialysis or kidney transplantation at time of enrollment. This study may include siblings of index SPLIS cases if the sibling has been genetically confirmed to have SPLIS, regardless of whether they have active disease at the time of enrollment. Data from deceased SPLIS patients will also be collected. Inclusion Criteria: Potential subjects fulfilling the following criteria will be eligible to participate in this study: 1. Living or deceased patients diagnosed with SPLIS based on 1. harbor biallelic pathogenic variant (PV) or likely PV (LPV) in the SGPL1 gene, regardless of phenotype OR 2. harbor nucleotide changes in both SGPL1 alleles, regardless of variant classification, if they also have one of the following: b1) exhibit at least 1 phenotypic feature of SPLIS (nephrosis, endocrine defect, ichthyosis, neuropathy, male gonadal dysgenesis, lymphopenia) b2) have evidence from biochemical or molecular data (such as enzyme expression or activity in skin fibroblasts) that indicate a possible loss of function in the S1P lyase (SPL) protein b3) are a sibling of a subject with nucleotide changes in both alleles of SGPL1 and at least 1 phenotypic feature of SPLIS 2. Informed consent and (if appropriate) assent for living subjects. For deceased subjects, the Principal Investigator (PI) will be responsible for ensuring that all requirements have been met in regard to the relevant local laws and regulations. Parents of participating SPLIS patients may be included as controls. Exclusion Criteria: Subjects with SPLIS (or their parents) who are currently using or have a history of using an investigational agent in the last 30 days with the exception of off-label use of medications will be excluded from the study
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.