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

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ClinicalTrials.gov Identifier: NCT04574830
Recruitment Status : Recruiting
First Posted : October 5, 2020
Last Update Posted : August 31, 2021
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

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

Condition or disease Intervention/treatment
Glycogen Storage Disease Type III Other: No Intervention

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
Actual Study Start Date : November 23, 2020
Estimated Primary Completion Date : November 2021
Estimated Study Completion Date : November 2021



Intervention Details:
  • Other: No Intervention
    No Intervention


Primary Outcome Measures :
  1. Urine hexose tetrasaccharide (Hex4): mean and variance [ Time Frame: Up to Day 35 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects with a confirmed diagnosis of GSD III
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04574830


Contacts
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Contact: Patients Contact: Trial Recruitment 1-415-483-8800 trialrecruitment@ultragenyx.com
Contact: HCPs Contact: Medical Information 1-888-756-8657 medinfo@ultragenyx.com

Locations
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United States, California
University of California Recruiting
Irvine, California, United States, 92697
Children's Hospital Orange County Recruiting
Orange, California, United States, 92868
United States, Colorado
Colorado Children's Hospital Recruiting
Aurora, Colorado, United States, 80045
United States, Texas
University of Texas Medical School Recruiting
Houston, Texas, United States, 77030
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Investigators
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Study Director: Medical Director Ultragenyx Pharmaceutical Inc
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Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT04574830    
Other Study ID Numbers: UX053-CL001
First Posted: October 5, 2020    Key Record Dates
Last Update Posted: August 31, 2021
Last Verified: August 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Glycogen Storage Disease
Glycogen Storage Disease Type III
Metabolic Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn