CompletedNCT04574830Updated Sep 13, 2022

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

An observational study in Glycogen Storage Disease Type III, sponsored by Ultragenyx Pharmaceutical Inc. Completed at 4 sites in United States. Open to participants aged 5 Years to 65 Years. Per ClinicalTrials.gov, last updated 2022-09-13.

Sponsored by Ultragenyx Pharmaceutical Inc · Observational

Study type: Observational
Model: Cohort
Time perspective: Prospective
Enrollment: 18
Ages: 5 Years to 65 Years
Sex: All

Study summary

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

Conditions studied

Glycogen Storage Disease Type III

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In context

Glycogen Storage Disease

95 studies on the registry are indexed under Glycogen Storage Disease; 15 are open to participants now.

This study's enrollment of 18 is below the median of 43 across 30 observational studies indexed under Glycogen Storage Disease.

Browse Glycogen Storage Disease studies →

Lead sponsor

Ultragenyx Pharmaceutical Inc is the lead sponsor of 63 studies on the registry; 8 are open to participants now.

Of its 13 completed or terminated interventional studies of FDA-regulated products, 11 (85%) have results posted.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: 5 Years to 65 Years
Sexes eligible: All
Accepts healthy volunteers: No
Sampling method: Non-probability sample

Study population

Subjects with a confirmed diagnosis of GSD III

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

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

Study design

Observational model: Cohort
Time perspective: Prospective
Enrollment: 18 participants (actual)
Patient registry: No

Interventions

OtherNo Intervention
No Intervention

What researchers measure

Primary outcomes

Urine hexose tetrasaccharide (Hex4): mean and variance
Time frame: Up to Day 35

Study locations

4 sites

University of California
Irvine, California 92697, United States
Children's Hospital Orange County
Orange, California 92868, United States
Colorado Children's Hospital
Aurora, Colorado 80045, United States
University of Texas Medical School
Houston, Texas 77030, United States

References and documents

Individual participant data

Plan to share: No

Updates

Tracking since Sep 25, 2026

No changes since tracking began. The registry record was last updated on Sep 13, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT04574830
Lead sponsor: Ultragenyx Pharmaceutical Inc
Responsible party: Sponsor
First posted: Oct 5, 2020
Start date: Nov 23, 2020
Primary completion: Jun 30, 2022
Completion: Jun 30, 2022
Last update: Sep 13, 2022

Study contacts

Medical Director

study director · Ultragenyx Pharmaceutical Inc

Oversight

Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Sep 2022. You cannot join it, but the record below documents what was studied.

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Discussion

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