Clinical trial NCT02385162: Biomarker for Glycogen Storage Diseases (BioGlycogen)
Official title: Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: 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
Keywords: Mucolipidoses
Metabolic Diseases
Lysosomal Storage Diseases
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2015-03-11
Enrollment: 0
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with a diagnosis of glycogen storage disease or profound suspicion for glycogen storage disease

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 \[also known as Cori disease, Forbes disease, Debrancher enzyme deficiency, Limit Dextrinosis\]

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

Primary outcomes:
measure: 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
timeFrame: 24 months
Secondary outcomes:
measure: Testing for clinical robustness, specificity and long-term stability of the biomarker
timeFrame: 36 months
Other outcomes:
Locations:
city: Rostock
country: Germany
facility: Centogene AG
city: Cochin
country: India
facility: Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Mumbai
country: India
facility: Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
city: Colombo 8
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof.
role: STUDY_CHAIR
References: