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