2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Urine Glucose Tetrasaccharide as a Potential Pharmacodynamic Biomarker for the Development of New Treatments for Glycogen Storage Disease Type III

Urine Glucose Tetrasaccharide as a Potential Pharmacodynamic Biomarker for the Development of New Treatments for Glycogen Storage Disease Type III

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The document describes a study that aimed to evaluate urine glucose tetrasaccharide (Glc4) as a potential pharmacodynamic biomarker for glycogen storage disease type III (GSD III). GSD III is a rare autosomal recessive disorder caused by a mutation in the AGL gene, resulting in glycogen overload and damage to the liver, muscle, and heart. Currently, there are no approved treatments for GSD III, and the standard of care is a medically prescribed diet.<br /><br />The study enrolled 11 pediatric and 7 adult patients with confirmed GSD III. Urine Glc4 was identified as a promising biomarker for GSD III disease activity. It was found to be elevated in all patients, regardless of age, and remained consistent over a 2-week period. The biomarker is easy to collect noninvasively and can be normalized against urine creatinine. It is primarily of liver origin, as indicated by its correlation with serum liver enzymes.<br /><br />The results support the use of urine Glc4 as a potential biomarker for GSD III disease activity. It can be used to measure the pharmacodynamic effects of investigational therapies for GSD III. The study provides important insights into the underlying pathobiology of GSD III and the development of new treatments.<br /><br />The document also includes information on the methods used to quantify Glc4 in human urine, the baseline characteristics of the study population, and the establishment of normal urine Glc4 ranges. It concludes with disclosures of the researchers' affiliations and funding sources for the study.

Asset Subtitle

Presenting Author - Rachael Hawtin, PhD; Co-Author - Manju Gupta, PhD; Co-Author - Fengxia Li, PhD; Co-Author - Diana Luca, PhD; Co-Author - Barbara A. Sullivan, PhD; Co-Author - Edward Brewer, MS; Co-Author - Hui Zhao, PhD; Co-Author - Andrew A. Grimm, MD, PhD;

Meta Tag

Metabolic Disorder

Molecular Pathophysiology

Natural History

Co-Author Manju Gupta, PhD

Co-Author Fengxia Li, PhD

Co-Author Diana Luca, PhD

Co-Author Barbara A. Sullivan, PhD

Co-Author Edward Brewer, MS

Co-Author Hui Zhao, PhD

Co-Author Andrew A. Grimm, MD, PhD

Presenting Author Rachael Hawtin, PhD

Keywords

urine glucose tetrasaccharide

Glc4

pharmacodynamic biomarker

glycogen storage disease type III

GSD III

mutation

AGL gene

glycogen overload

liver damage

muscle damage