Biomarker for Glycogen Storage Diseases (BioGlycogen)

Brief Title

Biomarker for Glycogen Storage Diseases (BioGlycogen)

Official Title


Brief Summary

      Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen
      Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term
      stability of the biomarker.

Detailed Description

      Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause
      glycogen to be improperly stored in the body. People with glycogen storage diseases have a
      buildup of abnormal amounts or types of glycogen in their tissues.

      The main types of glycogen storage diseases are categorized by number and name. They include:

      People with GSD I may have episodes of low blood sugar (hypoglycemia), usually during periods
      of fasting, due to the ability to store glycogen but inability to properly release it. People
      with GSD I typically develop an enlarged liver (hepatomegaly) from the storage of glycogen.
      Elevations in liver function enzymes, blood fat and cholesterol levels, lactic acid, and uric
      acid also occur. Additional features of GSD I can include decreased bone density, poor
      growth, kidney disease, liver adenomas, and delayed puberty. Treatment primarily consists of
      dietary management to maintain normal blood glucose levels and prevent hypoglycemia. GSD I is
      further divided into subtypes. GSD Type Ia is caused by a deficiency of glucose-6-phosphatase
      (G6Pase) primarily in the liver, and GSD Type Ib is caused by a deficiency of
      glucose-6-phosphate translocase. Many of the symptoms are similar, especially early in life.
      However, some people with Type Ib are more prone to infections given a weaker immune system.
      GSD I is caused by a non-working change in either the G6PC gene or the SLC37A4 gene, causing
      the deficiency of the particular enzyme. GSD I follows autosomal recessive inheritance.

      Glycogen Storage Disease Type II [also known as Pompe disease, Acid Maltase Deficiency,
      Glycogenosis Type II, Acid alpha-Glucosidase Deficiency, Lysosomal alpha-Glucosidase
      Deficiency] Pompe disease is an inherited and often fatal disorder caused by the deficiency
      of acid alpha-glucosidase (GAA), an enzyme needed to breakdown glycogen (sugar that is stored
      for energy) in specialized structures in the body, called lysosomes. Patients with Pompe
      disease have little or no GAA enzyme activity and cannot breakdown glycogen. The excess
      glycogen accumulates and is stored in the heart, skeletal muscle and other tissues, causing
      the progressive symptoms of Pompe disease.Glycogen Storage Disease Type III [also known as
      Cori disease, Forbes disease, Debrancher enzyme deficiency, Limit Dextrinosis]

Study Type


Primary Outcome

Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen storage disease using the technique of Mass-spectometry 7,5 ml EDTA blood, saliva tube and a dry blood spot filter card

Secondary Outcome

 Testing for clinical robustness, specificity and long-term stability of the biomarker


Fructose Metabolism, Inborn Errors

Study Arms / Comparison Groups

Description:  Patients with a diagnosis of Glycogen storage diseases based upon biochemical and/or genetic criteria or profound suspicion for Glycogen storage disease


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

August 20, 2018

Completion Date

August 2021

Primary Completion Date

August 2021

Eligibility Criteria

        Inclusion Criteria:

          -  Informed consent will be obtained from the parents before any study related

          -  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




2 Months - N/A

Accepts Healthy Volunteers



Peter Bauer, Prof., , 

Location Countries


Location Countries


Administrative Informations



Organization ID

BGL 06-2018

Responsible Party


Study Sponsor


Study Sponsor

Peter Bauer, Prof., Study Chair, Centogene GmbH

Verification Date

May 2021