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Biomarker for Glycogen Storage Diseases (BioGlycogen)

This study is currently recruiting participants.
Verified July 2017 by Prof. Dr. Arndt Rolfs, University of Rostock
Sponsor:
ClinicalTrials.gov Identifier:
NCT02385162
First Posted: March 11, 2015
Last Update Posted: July 5, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock
  Purpose
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma and saliva. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Condition
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

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Resource links provided by NLM:


Further study details as provided by Prof. Dr. Arndt Rolfs, University of Rostock:

Primary Outcome Measures:
  • 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 month ]

Secondary Outcome Measures:
  • Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectometry7,5 ml EDTA blood, saliva tube and a dry blood spot filter card are taken. To prove the correct diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing will be done. The analyses are done in the Centogene AG,Schillingallee 68, 18055 Rostock (Germany)

Estimated Enrollment: 100
Study Start Date: March 2015
Estimated Study Completion Date: April 2020
Estimated Primary Completion Date: March 2020 (Final data collection date for primary outcome measure)
Groups/Cohorts
Observation
Patients with a diagnosis of Glycogen storage diseases based upon biochemical and/or genetic criteria or profound suspicion for Glycogen storage disease

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]

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months and older   (Child, Adult, Senior)
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
  Contacts and Locations
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
Contact: Arndt Rolfs, Prof. +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Susanne Zielke +49 381 494 ext 4739 susanne.zielke@med.uni-rostock.de

Locations
Germany
Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, Prof.    +49 381 494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Sub-Investigator: Anne Katrin Giese, MD         
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Investigators
Principal Investigator: Arndt Rolfs, Prof. University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
  More Information

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT02385162     History of Changes
Other Study ID Numbers: BGL 01/2015
First Submitted: March 2, 2015
First Posted: March 11, 2015
Last Update Posted: July 5, 2017
Last Verified: July 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Mucolipidoses
Metabolic Diseases
Lysosomal Storage Diseases

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