Clinical trial NCT05196165: Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type III
Official title: Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Patients 1 Year of Age and Over With GSD III
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Glycogen Storage Disease Type III
Lead sponsor: Ultragenyx Pharmaceutical Inc
Sponsor class: INDUSTRY
First posted: 2022-01-19
Enrollment: 14
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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).


Eligibility criteria: 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

Primary outcomes:
measure: Number of Hypoglycemic Events During the 26-week Observation Period
timeFrame: Week 26
Secondary outcomes:
measure: Bayley Scales of Infant and Toddler Development (Bayley-4) Fine Motor and Gross Motor Domain Scores
timeFrame: Up to Week 26
measure: Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) Strength and Agility Scores
timeFrame: Up to Week 26
measure: 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
timeFrame: Up to Week 26
measure: Percent Predicted Muscle Strength as Measured by Handheld Dynamometry (HHD)
timeFrame: Up to Week 26
measure: Ankle Dorsiflexion, Measured Bilaterally Using Goniometry
timeFrame: Up to Week 26
measure: Percent Predicted Distance Walked as Measured by 6-minute Walk Test (6MWT) and 12-minute Walk Test (12MWT)
timeFrame: Up to Week 26
measure: GNE Myopathy Functional Activities Scale (GNEM-FAS) Expanded Version Domain Scores and Total Score
timeFrame: Up to Week 26
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Houston
country: United States
facility: University of Texas
state: Texas
city: Groningen
country: Netherlands
facility: University of Groningen Beatrix Children's Hospital
Study officials:
affiliation: Ultragenyx Pharmaceutical Inc
name: Medical Director
role: STUDY_DIRECTOR
References: