NCT04311307

Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia

Endogenous Glucose Production in Subjects With Glycogen Storage Disease Type Ia Estimated by a Single Oral Dose of Stable Isotopes: an Investigator-initiated Human Pilot Study

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 20 (actual)
• Sponsor: University Medical Center Groningen · Academic / Other
• Sex: All
• Age: 16 Years
• Healthy volunteers: Accepted

Summary

Glycogen storage disease type Ia (GSDIa) subjects retain a limited capacity for endogenous glucose production (EGP). To date, the origin of residual EGP in GSDIa patients is unknown. Either increased glycogen debranching or lysosomal glycogen breakdown can account for residual EGP in GSDIa. Innovative treatments for GSDIa (e.g. AAV8-mediated gene therapy and mRNA therapy) are being developed.Therefore, longitudinal minimally-invasive monitoring of outcomes after therapeutic interventions in GSD Ia subjects becomes warranted. The primary objective is to test the feasibility of EGP quantification in adult GSDIa subjects by stable isotopes after a single oral \[6,6-2H2\]glucose dose. Secondary objectives are to compare EGP assessed by a single oral \[6,6-2H2\]glucose dose (a) in GSDIa patients versus matched healthy participants, (b) among GSDIa patients, (c) in the pre-prandial state versus the fed state, (d) in the controlled hospital setting versus the home setting. Data collected from the continuous glucose monitoring data will also be compared

Detailed description

Study design: An investigator-initiated human pilot-study. Study population: Ten adult subjects with GSDIa and ten age and gender-matched healthy subjects. Interventions: Three experiments will be performed for each subject. During the first in hospital experiment, two oral D-\[6,6-2H2\]glucose loads will be performed 2 hours before breakfast and at lunchtime, respectively. The third oral D-\[6,6-2H2\]glucose load will be performed at home (random time). Capillary blood samples will be collected on filter paper at specific time points after each oral D-\[6,6-2H2\]glucose load. During the experiments, subjects will be monitored by subcutaneous continuous glucose monitoring (CGM).

Conditions

• Glycogen Storage Disease Type IA

Interventions

Type	Name	Description
BIOLOGICAL	[6,6-2H2]glucose	Each subject will be administered two oral \[6,6-2H2\]glucose loads (pre-prandial, fed) in the hospital setting and one oral \[6,6-2H2\]glucose load at home setting (random time). Capillary blood samples will be collected on filter paper 10 times at specific time points after each oral \[6,6-2H2\]glucose load.

Timeline

• Start date: 2021-01-19
• Primary completion: 2022-02-07
• Completion: 2022-02-07
• First posted: 2020-03-17
• Last updated: 2022-02-11

Locations

1 site across 1 country: Netherlands