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

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

Completed

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Key information

Conditions

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

Age range

5 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California, Irvine, California, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No intervention

Other

No Intervention

Primary outcomes

Urine hexose tetrasaccharide (Hex4): mean and variance

Time frame: Up to Day 35

Sponsors and collaborators

Lead sponsor

Ultragenyx Pharmaceutical Inc

Industry

Registry information

Official study title

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

Important dates

Study start: 2020
Primary completion: 2022
Study completion: 2022
First posted: Oct 5, 2020
Registry last updated: Sep 13, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed