Last updated on May 2019

Biomarker for Glycogen Storage Diseases (BioGlycogen)

Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Fructose Metabolism | Glycogen Storage Disease | Inborn Errors | Muscle Phosphofructokinase Deficiency | Glycogen Storage Disease Type V | Glycogen Storage Disease Type VIII | Von Gierke's disease | Glycogen Storage Disease Type VI | Glycogen Storage Disease Type IV | Glycogen storage disease type II | Glycogen Storage Disease Type III
  • Age: Between 1 - 100 Years
  • Gender: Male or Female

Inclusion Criteria:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both genders older than 2 month
  • The patient has a diagnosis of glycogen storage disease or a high-grade suspicion for glycogen storage disease

High-grade suspicion present, if one or more inclusion criteria are valid:

  • Positive family anamnesis for glycogen storage disease
  • Hypoglycemia
  • Growth retardation: short stature, skeletal myopathy
  • Hepatomegaly, Splenomegaly
  • Myopathy with muscle weakness
  • cardiomyopathy

Exclusion Criteria:

  • No Informed consent from the parents before any study related procedures
  • Patients of both genders younger than 2 month
  • No diagnosis of glycogen storage disease or no valid criteria for high-grade suspicion of glycogen storage disease

Recruitment Status: Open

Brief Description Eligibility Contact Research Team

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