NCT06669949 Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
| NCT ID | NCT06669949 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of California, San Francisco |
| Condition | Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) |
| Study Type | OBSERVATIONAL |
| Enrollment | 28 participants |
| Start Date | 2025-04-22 |
| Primary Completion | 2030-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 28 participants in total. It began in 2025-04-22 with a primary completion date of 2030-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized inborn error of metabolism. The central hypothesis is that age of onset, other disease features, and disease biomarkers will be predictive of quality of life (QOL) and survival in SPLIS patients.
Eligibility 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
Contact & Investigator
Julie D Saba, MD, PhD
PRINCIPAL INVESTIGATOR
University of California, San Francisco
Frequently Asked Questions
Who can join the NCT06669949 clinical trial?
This trial is open to participants of all sexes, studying Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06669949 currently recruiting?
Yes, NCT06669949 is actively recruiting participants. Contact the research team at Julie.Saba@ucsf.edu for enrollment information.
Where is the NCT06669949 trial being conducted?
This trial is being conducted at San Francisco, United States.
Who is sponsoring the NCT06669949 clinical trial?
NCT06669949 is sponsored by University of California, San Francisco. The principal investigator is Julie D Saba, MD, PhD at University of California, San Francisco. The trial plans to enroll 28 participants.