Liver Glycogen Storage Disease Top 10

  1. What are the best options (for example gene therapy or enzyme replacement therapy) for achieving sufficient amount of working enzyme in patients with liver GSD?
  2. Can consensus guidelines (for management) be achieved for patients with liver GSD?
  3. How should optimal metabolic control both clinically and biochemically (like lactate, ketones and/or lipids) be achieved in liver GSD?
  4. How should sickness and emergency situations be managed for patients with liver GSD?
  5. What is the best way to start dietary treatment, finding the optimal doses, and to administer the diet for patients with liver GSD?
  6. How can existing cornstarch preparations be modified or alternative treatments be implemented that are easier to administer and/or keep blood sugar levels more stable for patients with liver GSD?
  7. What is the role for new methods for monitoring metabolic control (like noninvasive continuous glucose and lactate measurements, new biomarkers) for patients with liver GSD?
  8. How to manage diet regimen in relation to "before, during and after" physical exercise (sport, playing) for patients with liver GSD?
  9. What are the long-term complications (liver, renal, gut) of a diet rich in uncooked cornstarch and/or high protein and should the diet be adjusted to prevent complications in liver GSD?
  10. What are the risks and benefits of different options for overnight treatment for patients with liver GSD and how can we maximize safety?
  11. How to prevent and/or treat muscle problems in patients with liver GSD?

The following questions were also discussed and put in order of priority at the workshop:

  1. What are the risks and benefits of gene therapy for patients with liver Glycogen Storage Disease?

  2. How can we improve the quality of life of patients with liver Glycogen Storage Disease?

  3. How to prevent and/or treat neurological problems in patients with liver Glycogen Storage Disease?

  4. What are the effects of different kinds of Ketogenic Diet in patients with Glycogen Storage Disease Type III?

  5. What is the needed restriction of lactose, fructose or saccharose in different types of liver Glycogen Storage Disease?

  6. How can patients with liver Glycogen Storage Disease achieve and/or maintain a healthy weight throughout life?

  7. How is the (natural) progression of liver Glycogen Storage Disease at different stages of life?

  8. What are the consequences of consumption of alcohol and drugs for patients with liver Glycogen Storage Disease?
  1. How to prevent and/or treat hormonal problems (i.e. thyroid, menstrual cycle, growth, diabetes, insulin response) in patients with liver Glycogen Storage Disease?
  1. When should liver transplantation be considered in patients with liver Glycogen Storage Disease and what are the (dis)advantages and long-term outcomes?
  1. Which is the role and use of medium-chain triglycerides (MCT) in the management of different patients with liver Glycogen Storage Disease?