Biomarker for Glycogen Storage Diseases (BioGlycogen) (BioGlycogen)
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ClinicalTrials.gov Identifier: NCT02385162 |
Recruitment Status :
Withdrawn
(Transition to BioMetabol)
First Posted : March 11, 2015
Last Update Posted : February 13, 2023
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Condition or disease |
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Fructose Metabolism, Inborn Errors Glycogen Storage Disease Glycogen Storage Disease Type I Glycogen Storage Disease Type II Glycogen Storage Disease Type III Glycogen Storage Disease Type IV Glycogen Storage Disease Type V Glycogen Storage Disease Type VI Glycogen Storage Disease Type VII Glycogen Storage Disease Type VIII |
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 : | Observational |
Actual Enrollment : | 0 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL |
Actual Study Start Date : | August 20, 2018 |
Actual Primary Completion Date : | February 28, 2021 |
Actual Study Completion Date : | February 28, 2021 |

Group/Cohort |
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Observation
Patients with a diagnosis of Glycogen storage diseases based upon biochemical and/or genetic criteria or profound suspicion for Glycogen storage disease
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- 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 [ Time Frame: 24 months ]New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
Biospecimen Retention: Samples With DNA
Für die Entwicklung neuer Biomarker mittels Massenspektrometrie werden 10ml EDTA-Blut und eine Filterkarte mit Trockenblutspots benötigt. Um die korrekte Diagnose für Glykogenosen bei den Patienten zu beweisen, bei denen bis zum Studieneinschluss noch keine genetische Diagnostik vorlag, werden die entsprechenden Sequenzierungen für den Nachweis der Glykogenosen erfolgen. Die Analysen werden von dem Labor Centogene AG pseudonymisiert durchgeführt.
CENTOGENE AG Am Strande 7 18055 Rostock Germany

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Ages Eligible for Study: | 2 Months and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02385162
Germany | |
Centogene AG | |
Rostock, Germany, 18055 | |
India | |
Amrita Institute of Medical Sciences & Research Centre | |
Cochin, Kerala, India, 682041 | |
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) | |
Mumbai, India, 400705 | |
Sri Lanka | |
Lady Ridgeway Hospital for Children | |
Colombo 8, Sri Lanka, 00800c |
Study Chair: | Peter Bauer, Prof. | Centogene GmbH |
Responsible Party: | CENTOGENE GmbH Rostock |
ClinicalTrials.gov Identifier: | NCT02385162 |
Other Study ID Numbers: |
BGL 06-2018 |
First Posted: | March 11, 2015 Key Record Dates |
Last Update Posted: | February 13, 2023 |
Last Verified: | February 2023 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Mucolipidoses Metabolic Diseases Lysosomal Storage Diseases |
Glycogen Storage Disease Type VII Glycogen Storage Disease Type II Glycogen Storage Disease Metabolism, Inborn Errors Glycogen Storage Disease Type III Glycogen Storage Disease Type V Glycogen Storage Disease Type I Glycogen Storage Disease Type IV Fructose Metabolism, Inborn Errors Glycogen Storage Disease Type VI Glycogen Storage Disease Type VIII Metabolic Diseases Disease Pathologic Processes Carbohydrate Metabolism, Inborn Errors |
Genetic Diseases, Inborn Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Lysosomal Storage Diseases Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Diseases Neuromuscular Diseases Genetic Diseases, X-Linked |