Mauriac Syndrome: Isotopic Techniques and Genetic Analysis
NCT04275141 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 6
Last updated 2024-05-08
Summary
Mauriac syndrome (MS) is an entity of individuals combining poorly controlled diabetes mellitus type 1, short stature and glycogenic hepatopathy. Thus, the functional significance of Mauriac syndrome for glucose metabolism remains disputed, and whether genetic defects in glycogen metabolism contribute to glycogenic hepatopathy in MS remains to be clarified.Coupling the genetic analysis of targeted genes involved in glucose regulation with a dynamic exploration will eventually determine if a genetic abnormality leads to the disease and explains the nature of the phenotype.
Conditions
- Diabetes Mellitus
- Short Stature
- Glycogen Deposition
Interventions
- OTHER
-
oral glucose load
oral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min
- OTHER
-
exercise test
oral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min
Sponsors & Collaborators
-
University Hospital, Geneva
collaborator OTHER -
University of Lausanne
lead OTHER
Study Design
- Allocation
- NON_RANDOMIZED
- Purpose
- OTHER
- Masking
- NONE
- Model
- PARALLEL
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-01-17
- Primary Completion
- 2022-07-31
- Completion
- 2023-12-30
Countries
- Switzerland
Study Locations
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