Temas abordados

For Pompe

• Immunological and treatment aspects in high sustained rhGAA antibodies in Pompe patients (treatment)
• The IVS1 phenotype in Pompe individuals diagnosed on newborn screening programs (natural hystory)
• Functional pulmonary tests in Late Onset Pompe Patients with long term ERT treatment. A rational evaluation (propaedeutic)
• Technological dependence in Infantile Pompe patients with long term ERT treatment (rehabilitation)
• Pregnancy and Pompe disease (natural history)
• Effects of ERT cessation in Pompe patients (treatment)
• Where we stand on gene therapy for Pompe Patients (innovations update)
• MRI in Pompe patients: from birth to late onset forms. From brain to muscles. (propaedeutic)
• Experience with ERT home infusions in LOPD (treatment)
• Patients organizations as a creative source of partnership in research and lay advocacy for Pompe patients (lay knowledge)
• Should a physician always prescribe rhGAA treatment for every Pompe patient? (treatment)
• WeeFIM® as a functional inventory to stage Pompe patients through the long term ERT treatment phases (rehabilitation)
• Nutrition and Pompe disease. What are we missing. (treatment)
• What can the Pompe Registry teach us? (epidemiology)
• Where we stand with newborn screening (diagnosis)
• Brain and vascular involvement in Pompe disease
• Experience 10 years results of ERT administration in 180 Italian patients
• Future Treatments for Pompe: Chapérones, gene therapy , new enzyme replacement therapies, combination os different therapies

Other Muscle GSDs

• McArdle: current care and recommendations
• McArdle: current clinical trials : valproate and triheptanoin
• Polyglucosan body myopathies: where do we stand

Muscle and Liver GSDs

• GSDIII: neuromuscular manifestations in children and adults
• GSDIII: cardiac manifestations  
• GSDIII: towards gene therapy? mRNA and gene therapy approaches
• Muscle biopsy features of GSDIII
• Research on prevention of muscle damage for GSD III

Liver GSDs

• Role of metabolic control for preventing complications
• Dietary Recommendations / Controversies in diet
• Eating disturbances - how to manage?
• Genetic counseling and pre-implantation/prenatal diagnosis for hepatic GSD
• Management of adults  with GSD
• Pregnancy and GSDs
• Presentation on risks of G-CSF in GSD Ib
• Research on new therapies for treatment of neutropenia
• Impact of diet on Metabolic control
• New models of GSD  in mice
• Synergistic heterozygosity
• Role for isotope studies for assessing glycogenolysis and emerging therapies
• New dietary therapies for GSD
• Microbiome impact in GSDs
• Growth in Fanconi Bickel Syndrome
• The real life of GSDs