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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04574830

Enrollment

Registered

2020-10-05

Start date

2020-11-23

Completion date

2022-06-30

Last updated

2022-09-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Glycogen Storage Disease Type III

Brief summary

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

Interventions

OTHERNo Intervention

No Intervention

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to 65 Years

Healthy volunteers

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

Design outcomes

Primary

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

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026