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NCT Number: NCT04311307

Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia

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

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Key information

Conditions

Glycogen Storage Disease Type IA Hepatorenal form of glycogen storage disease

Age range

16 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

University of Groningen, UMC Groningen

Groningen, Netherlands

About this study

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).

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • The diagnosis should be confirmed by G6PC mutation analysis
  • Age above 16 years
  • Stable medical condition before the start of the test procedures

Exclusion criteria

  • Age < 16 years
  • Intercurrent illness
  • Recent history of hospitalization due to hypoglycemia
  • Pregnancy
  • History suggestive of diabetes or fasting intolerance
  • First grade family member with a confirmed diagnosis associated with fasting intolerance

Treatment and study plan

[6,6-2H2]glucose

Biological

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.

Primary outcomes

  1. [6,6-2H2]glucose concentration in GSDIa patients

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

    Endogenous glucose production (EGP) in GSDIa will be assessed through minimal model calculation

Secondary outcomes

  1. [6,6-2H2]glucose concentration in GSDIa patients and matched healthy participants

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

  2. [6,6-2H2]glucose concentration in severe and attenuated GSDIa patients

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

  3. [6,6-2H2]glucose concentration in the pre-prandial state versus the fed state in GSDIa patients

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

  4. [6,6-2H2]glucose concentration in the pre-prandial state versus the fed state in healthy participants

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

  5. [6,6-2H2]glucose concentration in the controlled hospital setting versus the home setting in GSDIa patients

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

  6. [6,6-2H2]glucose concentration in the controlled hospital setting versus the home setting in healthy participants

    Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load

Sponsors and collaborators

Lead sponsor

University Medical Center Groningen

Other

Collaborators

  • Ultragenyx Pharmaceutical Inc

Registry information

Official study title

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

Acronym: ENGLUPRO GSDIa

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Mar 17, 2020
Registry last updated
Feb 11, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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