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

Glycogen Storage Disease Type III Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04574830
• Other study ID #: UX053-CL001
• Status: Completed
• Start date: November 23, 2020
• Est. completion date: June 30, 2022

Study information

• Verified date: September 2022
• Source: Ultragenyx Pharmaceutical Inc
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 18
• Est. completion date: June 30, 2022
• Est. primary completion date: June 30, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years to 65 Years

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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

Related Conditions & MeSH terms

• Disease
• Glycogen Storage Disease
• Glycogen Storage Disease Type III
• Metabolic Diseases

Intervention

Other:
• No Intervention
No Intervention

Locations

Country	Name	City	State
United States	Colorado Children's Hospital	Aurora	Colorado
United States	University of Texas Medical School	Houston	Texas
United States	University of California	Irvine	California
United States	Children's Hospital Orange County	Orange	California

Sponsors (1)

Lead Sponsor	Collaborator
Ultragenyx Pharmaceutical Inc

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Urine hexose tetrasaccharide (Hex4): mean and variance		Up to Day 35

External Links

•   Ultragenyx Patient Advocacy/GSD III Disease Information