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