Summary

Healthy Volunteers
healthy people welcome
Location
at UCSF
Dates
study started
estimated completion
Principal Investigator
by Julie D Saba, MD, PhD (ucsf)
Photo of Julie D Saba
Julie D Saba

Description

Summary

This protocol aims to characterize the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS) 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.

Official Title

Sphingosine Phosphate Lyase Insufficiency Syndrome - Observational Study and Patient Registry (International)

Details

This protocol aims to characterize the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS) and to create a SPLIS patient registry. SPLIS is a recently discovered genetic disease caused by recessive mutations in the SGPL1 gene. SPLIS can have effects on the kidney, adrenal gland, brain, skin, and blood cells. Some patients with SPLIS do not survive beyond infancy, whereas others live to adulthood. By monitoring the natural history of SPLIS over time in affected patients, the investigators will establish a clinical baseline that reflects how the disease progresses over time. This information may be useful in future clinical trials. The results may reveal which types of SGPL1 mutations correlate with best and worst patient outcomes. Some SPLIS patients are current on a regimen of high dose vitamin B6 supplementation on the advice of their treating physician. By including patients treated with B6, our study may provide evidence for the impact of B6 treatment on biochemical and blood markers of the disease. Our overall goals are to characterize the clinical, biochemical and metabolic manifestations of SPLIS and how these manifestations change over time within individuals with this condition.

Keywords

Sphingolipidoses Enzyme Deficiency SPLIS sphingosine phosphate lyase SGPL1 sphingolipidosis steroid-resistant nephrotic syndrome primary adrenal insufficiency neurological defect no intervention

Eligibility

You can join if…

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.

You CAN'T join if...

the investigators will not include:

  • prisoners
  • pregnant women
  • healthy volunteers with:
  • diabetes,
  • infection,
  • fever,
  • known HIV/AIDS,
  • cardiac disease
  • or anemia.

Location

  • University of California San Francisco accepting new patients
    San Francisco California 94143 United States

Lead Scientist at University of California Health

  • Julie D Saba, MD, PhD (ucsf)
    Sphingosine-1-phosphate (S1P) is a bioactive lipid that plays important roles in development, vascular biology, immune cell trafficking, carcinogenesis and other physiological processes. S1P mediates its actions primarily by signaling through a family of G protein-coupled receptors.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
Links
Genetic and Rare Disease (GARD) Information Center, National Center for Advancing Translational Sciences
ID
NCT04885179
Study Type
Observational [Patient Registry]
Last Updated