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.
- Conditions
- Glycogen Storage Disease Type Ia (GSDIa) & Von Gierke's Disease10021605
- Registration Number
- NL-OMON50039
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 20
In order to be eligible to participate in this study, The GSDIa patients must
meet all of the following criteria:
• The diagnosis should be confirmed by G6PC mutation analysis
• Age above 16 years
• Stable medical condition before the start of the test procedures
A potential GSD Ia patient who meets any of the following criteria will be
excluded from participation in this study:
• Age < 16 years
• Recent (< 1 month) history of hospitalization due to hypoglycaemia
• Intercurrent illness, defined as (a combination of) decreased dietary intake,
vomiting, diarrhoea and fever (>38.5*C) in the week prior to the visit
• Pregnancy
A potential age and gender-matched healthy participant who meets any of the
following criteria will be excluded from participation in this study:
• Confirmed diagnosis or history suggestive of diabetes mellitus
• First grade family member with a confirmed diagnosis associated with fasting
intolerance
• History suggestive of fasting intolerance
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main study parameter is the EGP quantification assessed by measurement of<br /><br>blood D-[6,6-2H2]glucose enrichment. </p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary study parameters are glucose area under the curve, glucose clearance<br /><br>rate, glucose bioavailability, glucose apparent volume of distribution and CGM<br /><br>data. </p><br>