Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type III

Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Patients 1 Year of Age and Over With GSD III

The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric participants with glycogen storage disease type III (GSD III).

Study Overview

• Status: Terminated
• Conditions: Glycogen Storage Disease Type III
• Intervention / Treatment: Other: No Intervention

• Study Type: Observational
• Enrollment (Actual): 14

Contacts and Locations

Study Locations

• Netherlands
  • Groningen, Netherlands, 9700RB
    • University of Groningen Beatrix Children's Hospital
• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia
  • Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine
    • Houston, Texas, United States, 77030
      • University of Texas

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study aims to enroll at least 5 participants from each of the following age groups: 1-5 years, 6-12 years, 12-17 years, and ≥ 18 years.

Description

Key Inclusion Criteria:

• Diagnosis of GSD III, confirmed by amylo-alpha-1,6-glucosidase 4-alpha-glucanotransferase (AGL) sequencing or glycogen debranching enzyme (GDE) enzymatic testing

Key Exclusion Criteria:

• Participant is unwilling to remain blinded to continuous glucose monitor (CGM) data for the first 13 weeks of the study, or the Investigator determines that blinding would compromise subject safety
• Presence or history of any condition that, in the view of the Investigator, would interfere with participation or pose undue risk
• Use of any IP or investigational medical device within 30 days or 5.5 half-lives, whichever is longer, prior to screening, or during the study

Note: Other criteria may apply per protocol

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Number of Hypoglycemic Events During the 26-week Observation Period	Week 26

Secondary Outcome Measures

Outcome Measure	Time Frame
Bayley Scales of Infant and Toddler Development (Bayley-4) Fine Motor and Gross Motor Domain Scores	Up to Week 26
Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) Strength and Agility Scores	Up to Week 26
Number of Times the Participant can Rise from a Seated to a Standing Position in a 30-second Period, as Measured by the Site-to-Stand (STS) Test	Up to Week 26
Percent Predicted Muscle Strength as Measured by Handheld Dynamometry (HHD)	Up to Week 26
Ankle Dorsiflexion, Measured Bilaterally Using Goniometry	Up to Week 26
Percent Predicted Distance Walked as Measured by 6-minute Walk Test (6MWT) and 12-minute Walk Test (12MWT)	Up to Week 26
GNE Myopathy Functional Activities Scale (GNEM-FAS) Expanded Version Domain Scores and Total Score	Up to Week 26

Collaborators and Investigators

• Sponsor: Ultragenyx Pharmaceutical Inc
• Investigators: Study Director: Medical Director, Ultragenyx Pharmaceutical Inc

Publications and helpful links

Helpful Links

• Patient Advocacy at Ultragenyx: Glycogen Storage Disease Type III (GSDIII)

Study record dates

Study Major Dates

• Study Start (Actual): May 20, 2022
• Primary Completion (Actual): March 2, 2023
• Study Completion (Actual): March 2, 2023

Study Registration Dates

• First Submitted: December 10, 2021
• First Submitted That Met QC Criteria: January 4, 2022
• First Posted (Actual): January 19, 2022

Study Record Updates

• Last Update Posted (Actual): September 28, 2023
• Last Update Submitted That Met QC Criteria: September 26, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Glucose Metabolism Disorders; Metabolic Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Disease; Hypoglycemia; Glycogen Storage Disease; Glycogen Storage Disease Type III
• Other Study ID Numbers: UX053-CL002

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No