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

NCT05196165 | Terminated

• 1 other identifier: UX053-CL002
• Study Type: observational
• Target: 14
• Locations: 2 countries
• Sites: 4

Brief Summary

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).

Conditions

Glycogen Storage Disease Type III

Outcome Measures

Primary Outcomes (1)

• Number of Hypoglycemic Events During the 26-week Observation Period

  Week 26

Secondary Outcomes (7)

• 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

Interventions

No Intervention OTHER

No investigational product (IP) will be administered in this study

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead

Study Sites (4)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

University of Texas

Houston, Texas, 77030, United States

Location

University of Groningen Beatrix Children's Hospital

Groningen, 9700RB, Netherlands

Location

Related Links

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

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: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 10, 2021
• First Posted: January 19, 2022
• Study Start: May 20, 2022
• Primary Completion: March 2, 2023
• Study Completion: March 2, 2023
• Last Updated: September 28, 2023

Record last verified: 2023-09

Locations

US (3); NL (1)