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Scientific Topics 

 

Topics for the scientific portion of the conference are presented by world renown experts.  


 

  • Liver tumor pathology of GSD Ia

  • Renal pathology of GSD Ia

  • Gene therapy for GSD Ia: clinical updates

  • Gene therapy for GSD Ia: preclinical updates

  • Gene therapy for GSD Ia: preclinical updates

  • mRNA therapy for GSD Ia

  • Mechanism by which SGLT2 inhibitors block 1,5-AG renal reabsorption

  • Can empagliflozin lower blood 1,5-anhydroglucitol in the absence of glucosuria

  • Repurpose of Dapagliflozine to treat neutropenia in children and adults with GSD1b. Experience from from one French centre.

  • Efficacy and safety of empagliflozin in GSDIb: data from an international questionnaire and future directions

  • Liver transplantation in GSD Ib: a case presentation and overview of the literature

  • Newborn screening and experience to date

  • mini-COMET study (neoGAA)

  • Longterm issues in IOPD

  • Immune issues in IOPD

  • Updates on gene therapy for late-onset Pompe Disease

  • Animal model links between hepatic tumor and metabolism

  • Emerging therapies for GSD III

  • GSD III natural history and multidisciplinary care

  • The role of liver transplant in GSD IV

  • The management and treatment of GSD IV from a caregiver's perspective

  • Small molecules as novel therapeutics for Adult Polyglucosan Body Disease: from bench to bedside

  • Adult Polyglucosan Body Disease: 1991-2021

  • Glycogen synthase downregulation as a potential therapeutic for APBD

  • Preclinical natural history of GSD IV/APBD

  • McArdle App Development

  • Retinal Disorders GSD V

  • Ketogenic diet in GSD V

  • Reneo Clinical Trial GSD V

  • CPG GSD V & VII

  • Dominant PYGM family

  • Lessons learned from preclinical models of GSD VI and IX

  • Learnings from liver biopsy findings in patients with GSD IX ( was it also GSD VI)? , also review of the literature to understand the clinical course of the disease

  • GSD IX y2 case study

  • Review of the USA GSD VI and IX guidelines and how they have helped with patient management

  • Comparison of UK Practice to the USA GSD VI/IX Guidelines

  • Metabolic syndrome and cortisol metabolism dysregulation in GSD I - focus on pathology and biomarkers

  • Use of CGMS to inform nutritional decisions

  • Use of CGMS to improve metabolic control (I, III, IX cases)

  • CGMS to titrate Glycosade & Empaglioflozin

  • Continuous glucose monitoring with emphasis on GSD Ib

  • Role of CGM in management of GSD VI and IX

  • New insights into growth in GSD: contributing factors, assessment methods, and management techniques

  • Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver GSDs?

  • Genomic analysis in the diagnosis of glycogen storage diseases

  • Preclinical models for GSD I: opportunities and challenges

  • Update on New York State Newborn Screening for Pompe Disease: Testing and Outcomes

  • Not-So-Basic Genetics: How Genetic Diagnosis of GSD Informs Clinical Care

  • Methods for High-throughput functional characterization of variants of uncertain significance for GSDs

  • Identifying missing GSD IX variants using new sequencing and gene editing technologies