RECRUITING

SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)

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 protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, 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)

Quick Facts

Study Start:2020-06-30
Study Completion:2025-06-30
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04885179

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:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. * prisoners
  2. * pregnant women
  3. * healthy volunteers with:
  4. * diabetes,
  5. * infection,
  6. * fever,
  7. * known HIV/AIDS,
  8. * cardiac disease
  9. * or anemia.

Contacts and Locations

Study Contact

Julie D Saba, MD, PhD
CONTACT
510-414-6317
Julie.Saba@ucsf.edu
Joanna Y Lee, PhD
CONTACT
510-590-8292
Joanna.Lee@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 Date2020-06-30
Study Completion Date2025-06-30

Study Record Updates

Study Start Date2020-06-30
Study Completion Date2025-06-30

Terms related to this study

Keywords Provided by Researchers

  • SPLIS
  • sphingosine phosphate lyase
  • SGPL1
  • sphingolipidosis
  • steroid-resistant nephrotic syndrome
  • primary adrenal insufficiency
  • neurological defect

Additional Relevant MeSH Terms

  • Sphingolipidoses
  • Enzyme Deficiency