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Biomarker for Glycogen Storage Diseases (BioGlycogen) (BioGlycogen)

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ClinicalTrials.gov Identifier: NCT02385162
Recruitment Status : Recruiting
First Posted : March 11, 2015
Last Update Posted : May 14, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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.

Condition or disease
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

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]


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Study Type : Observational
Estimated Enrollment : 1000 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
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021


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



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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



Information from the National Library of Medicine

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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
Study Population
Patients with a diagnosis of glycogen storage disease or profound suspicion for glycogen storage disease
Criteria

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

Information from the National Library of Medicine

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


Contacts
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Contact: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com

Locations
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Germany
Centogene AG Recruiting
Rostock, Germany, 18055
Contact: Arndt Rolfs, Prof.         
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Pakistan
Childrens Hospital and Institute of Child Health, Ferozepur Road Recruiting
Lahore, Pakistan, 54600
Contact: Huma Arshad Cheema, Prof.         
Contact: Nadeem Anjum         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT02385162     History of Changes
Other Study ID Numbers: BGL 06-2018
First Posted: March 11, 2015    Key Record Dates
Last Update Posted: May 14, 2019
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Centogene AG Rostock:
Mucolipidoses
Metabolic Diseases
Lysosomal Storage Diseases

Additional relevant MeSH terms:
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Metabolic Diseases
Glycogen Storage Disease
Glycogen Storage Disease Type II
Metabolism, Inborn Errors
Glycogen Storage Disease Type V
Glycogen Storage Disease Type I
Glycogen Storage Disease Type III
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type VII
Fructose Metabolism, Inborn Errors
Glycogen Storage Disease Type VIII
Glycogen Storage Disease Type VI
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