RECRUITING

Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Conditions

Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)sphingosine phosphate lyase SGPL1 sphingolipidosis steroid-resistant nephrotic syndrome neurological defect sphingolipid nephrotic syndrome primary adrenal insufficiency primary immunodeficiency Charcot-Marie-Tooth Disease hypothyroidism ichthyosis sphingosine phosphate lyase insufficiency syndrome RENI syndrome NPHS14

Quick Navigation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Natural History and Phenotypic Spectrum of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Quick Facts

Study Start:2025-01-01

Study Completion:2030-12-31

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06669949

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
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.	Pregnancy or breastfeeding Severe psychiatric disorders Active substance abuse Unstable medical conditions Inability to comply with study requirements

Inclusion Criteria

Exclusion Criteria

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.

Pregnancy or breastfeeding
Severe psychiatric disorders
Active substance abuse
Unstable medical conditions
Inability to comply with study requirements

Contacts and Locations

Study Contact

Julie D Saba, MD, PhD

CONTACT

510-414-6317

Julie.Saba@ucsf.edu

Principal Investigator

Julie D Saba, MD, PhD

PRINCIPAL_INVESTIGATOR

University of California, San Francisco

Study Locations (Sites)

University of California San Francisco

San Francisco, California, 94143

United States

Collaborators and Investigators

Sponsor: University of California, San Francisco

Julie D Saba, MD, PhD, PRINCIPAL_INVESTIGATOR, University of California, San Francisco

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-01-01

Study Completion Date2030-12-31

Study Record Updates

Study Start Date2025-01-01

Study Completion Date2030-12-31

Terms related to this study

Keywords Provided by Researchers

sphingosine phosphate lyase
SGPL1
sphingolipidosis
steroid-resistant nephrotic syndrome
neurological defect
sphingolipid
nephrotic syndrome
primary adrenal insufficiency
primary immunodeficiency
Charcot-Marie-Tooth Disease
hypothyroidism
ichthyosis
sphingosine phosphate lyase insufficiency syndrome
RENI syndrome
NPHS14

Additional Relevant MeSH Terms

Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)