Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
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Layout table for eligibility information
Ages Eligible for Study:
5 Years to 65 Years (Child, Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Subjects with a confirmed diagnosis of GSD III
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
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