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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

18 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-11-23

Study Completion Date

2022-06-30

Brief Summary

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

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Detailed Description

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Conditions

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Glycogen Storage Disease Type III

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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No Intervention

Intervention Type OTHER

Eligibility Criteria

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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

Minimum Eligible Age

5 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No