Biomarker for Glycogen Storage Diseases (BioGlycogen)

Sponsor

CENTOGENE GmbH Rostock (Industry)

Overall Status

Active, not recruiting

CT.gov ID

NCT02385162

Collaborator

(none)

1,000

Enrollment

Locations

35.4

Anticipated Duration (Months)

250

Patients Per Site

7.1

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
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]

Study Design

Study Type:

Observational

Anticipated 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 :

Aug 20, 2018

Anticipated Primary Completion Date :

Aug 1, 2021

Anticipated Study Completion Date :

Aug 1, 2021

Arms and Interventions

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

Outcome Measures

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 [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

Testing for clinical robustness, specificity and long-term stability of the biomarker [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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Months and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Centogene AG	Rostock		Germany	18055
2	Amrita Institute of Medical Sciences & Research Centre	Cochin	Kerala	India	682041
3	Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)	Mumbai		India	400705
4	Lady Ridgeway Hospital for Children	Colombo 8		Sri Lanka	00800c