Summary

Eligibility
for people ages 5-65 (full criteria)
Location
at Irvine, California and other locations
Dates
study started
estimated completion

Description

Summary

The primary objective of this study is to evaluate potential biomarkers of GSD III.

Official Title

Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)

Keywords

Glycogen Storage Disease Type III Glycogen Storage Disease Metabolic Diseases No Intervention

Eligibility

You can join if…

Open to people ages 5-65

  • Confirmed historical diagnosis of GSD III based on pathogenic mutations in the AGL gene on both alleles or GDE deficiency based on biopsy of liver, muscle, or fibroblasts
  • Willing to comply with all study procedures
  • Willing and able to provide written informed consent. If a minor, willing and able to provide written assent and have a legally authorized representative willing and able to provide written informed consent

You CAN'T join if...

  • Presence or history of any condition that, in the view of the Investigator, places the subject at high risk of poor study compliance, interferes with study participation, or interferes with the subject's ability to safely or reliably complete the study assessments
  • Use of any IP within 30 days prior to informed consent/assent or at the time of enrollment

Locations

  • University of California accepting new patients
    Irvine California 92697 United States
  • Children's Hospital Orange County not yet accepting patients
    Orange California 92868 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Ultragenyx Pharmaceutical Inc
ID
NCT04574830
Study Type
Observational
Last Updated