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

NCT04574830 | Completed

• 1 other identifier: UX053-CL001
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 4

Brief Summary

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

Conditions

Glycogen Storage Disease Type III

Outcome Measures

Primary Outcomes (1)

• Urine hexose tetrasaccharide (Hex4): mean and variance

  Up to Day 35

Interventions

No Intervention OTHER

No Intervention

Eligibility Criteria

• Age: 5 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with a confirmed diagnosis of GSD III

You may qualify if:

• 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 may not qualify 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

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead

Study Sites (4)

University of California

Irvine, California, 92697, United States

Location

Children's Hospital Orange County

Orange, California, 92868, United States

Location

Colorado Children's Hospital

Aurora, Colorado, 80045, United States

Location

University of Texas Medical School

Houston, Texas, 77030, United States

Location

Related Links

• Ultragenyx Patient Advocacy/GSD III Disease Information

MeSH Terms

Conditions

Glycogen Storage Disease Type III

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Director

  Ultragenyx Pharmaceutical Inc

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 28, 2020
• First Posted: October 5, 2020
• Study Start: November 23, 2020
• Primary Completion: June 30, 2022
• Study Completion: June 30, 2022
• Last Updated: September 13, 2022

Record last verified: 2022-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (4)