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Trial record 1 of 1 for:    NCT02385162
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Biomarker for Glycogen Storage Diseases (BioGlycogen) (BioGlycogen)

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. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02385162
Recruitment Status : Active, not recruiting
First Posted : March 11, 2015
Last Update Posted : April 3, 2020
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Tracking Information
First Submitted Date March 2, 2015
First Posted Date March 11, 2015
Last Update Posted Date April 3, 2020
Actual Study Start Date August 20, 2018
Estimated Primary Completion Date August 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 8, 2019)
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.
Original Primary Outcome Measures
 (submitted: March 10, 2015)
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 ]
Change History
Current Secondary Outcome Measures
 (submitted: January 8, 2019)
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.
Original Secondary Outcome Measures
 (submitted: March 10, 2015)
Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Biomarker for Glycogen Storage Diseases (BioGlycogen)
Official Title Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
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 Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:

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

Sampling Method Probability Sample
Study Population Patients with a diagnosis of glycogen storage disease or profound suspicion for glycogen storage disease
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
Intervention Not Provided
Study 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
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: January 8, 2019)
1000
Original Estimated Enrollment
 (submitted: March 10, 2015)
100
Estimated Study Completion Date August 2021
Estimated Primary Completion Date August 2021   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Months and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Germany,   India,   Sri Lanka
Removed Location Countries Pakistan
 
Administrative Information
NCT Number NCT02385162
Other Study ID Numbers BGL 06-2018
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Centogene AG Rostock
Study Sponsor Centogene AG Rostock
Collaborators Not Provided
Investigators
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock
PRS Account Centogene AG Rostock
Verification Date April 2020