Oral empaglifozin 5 mg 1x/day, increase up to 10 mg 1x/day if no 25% decrease of blood1,5-anhydroglucitol level

Glycogen Storage Disease Type I

Glucose 6 Phosphatase Deficiency

Empagliflozin

Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-1250. doi: 10.1073/pnas.1816143116. Epub 2019 Jan 9.

Cliniques universitaires Saint-Luc

Safety, Efficacy Evaluation of Empagliflozin Administration for Neutropenia in Glycogenosis Type 1b and G6PC3 Deficiency

Evaluation of the Safety and Efficacy of Empagliflozin Administration as a Treatment for Neutropenia in Patients With Glycogenosis Type 1b and G6PC3 Deficiency

Empaglifozin safety is measured by absence of hypoglycaemia due to gliflozin treatment (continuous monitoring during the first 2 days of treatment and glycemia punctual monitoring every 7 days for 2 months) (mg/dl)

Efficacy of drug is measured by an Increased neutrophil count as compared to pre-treatment (10exp3/µl)

Empaglifozin Clinical efficacy is measured as a Decrease in the number of infections
-Decrease in the number of episodes of oral aphtosis (stomatitis) We will use numerical scale: higher scores mean worse outcome

Empaglifozin Biological efficacy is measured as a Decrease of blood 1,5-anhydroglucitol (µM)

Empaglifozin Biological efficacy is measured as decrease in the level of 1,5-anhydroglucitol-6-phosphate in neutrophils (µM)

Empaglifozin Biological efficacy is measured as increased excretion of urinary 1,5-anhydroglucitol (µM)

Empaglifozin Biological efficacy is measured as improved neutrophilic function (glycosylation analysis, Western Blot)

Cliniques universitaires Saint-Luc- Université Catholique de Louvain

Experiment 1: study day 1- single oral dose of glucose study day 2- single oral dose of glucose with U-13C-glucose

Experiment 2: study day 1-single oral dose of uncooked cornstarch study day 2-single oral dose of uncooked cornstarch with U-13C-glucose study day 3-single oral dose of Glycosade® study day 4-single oral dose of Glycosade® with U-13C-glucose

Patient Compliance

Healthy

Experiment 1: study day1- single oral dose of glucose study day 2-single oral dose of glucose with U-13C-glucose

Glucose intake

Experiment 2:study day1- single oral dose of uncooked cornstarch study day 2-single oral dose of uncooked cornstarch with U-13C-glucose study day 3- single oral dose of Glycosade® study day 4-single oral dose of Glycosade® with U-13C-glucose

Carbohydrates intake

BC Children's Hospital Research Institute, University of British Columbia

Glycogen Storage Disease Breath Test Study

Application of Novel Techniques to Devise Nutritional Therapies in Subjects With Glycogen Storage Disease Type I

Breath sample will be collected during the study to measure the rate of oxidation of 13C glucose

There is no plan to share data with other researchers

Rajavel Elango, PhD

Principal Investigator

University of British Columbia

Saudi Arabian Cultural Bureau, Ottawa

Canadian Institutes of Health Research (CIHR)

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

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

Fructose Metabolism, Inborn Errors

Glycogen Storage Disease

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

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Glycogen Storage Diseases (BioGlycogen)

Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

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.

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.

acanthocheilonemiasis/phosphatase

Safety, Efficacy Evaluation of Empagliflozin Administration for Neutropenia in Glycogenosis Type 1b and G6PC3 Deficiency

Glycogen Storage Disease Breath Test Study

Biomarker for Glycogen Storage Diseases (BioGlycogen)

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