WithdrawnNot Applicable

Biomarker for Glycogen Storage Diseases (BioGlycogen)

Stopped: Transition to BioMetabol

Germany, India, Sri Lanka0Started 2018-08-20

Plain-language 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.

Who can participate

Age range2 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

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

Trial details

NCT IDNCT02385162

SponsorCENTOGENE GmbH Rostock

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2021-02-28

View on ClinicalTrials.gov More Fructose Metabolism, Inborn Errors trials