NCT04275141

Mauriac Syndrome: Isotopic Techniques and Genetic Analysis

Genetic Analysis Coupled to Application of Isotopic Techniques to the Study of Mauriac Syndrome

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 6 (actual)
• Sponsor: University of Lausanne · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Detailed description

Investigation of glucose homeostasis in MS, after an oral glucose load followed by exercise, using a quantitative measurement of the substrate flux. This dynamic in vivo kinetics can be explored using stable, nonradioactive tracers with the help of gas or liquid chromatography. Investigation of genetic factors associated with MS phenotype. Molecular analysis will be performed by next generation sequencing (exome or whole genome sequencing). In addition, a targeted analysis for pathogenic variants in genes implicated in homeostasis regulation will be done.

Conditions

• Diabetes Mellitus
• Short Stature
• Glycogen Deposition

Interventions

Type	Name	Description
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

Timeline

• Start date: 2022-01-17
• Primary completion: 2022-07-31
• Completion: 2023-12-30
• First posted: 2020-02-19
• Last updated: 2024-05-08

Locations

2 sites across 1 country: Switzerland