Status:
COMPLETED
Mauriac Syndrome: Isotopic Techniques and Genetic Analysis
Lead Sponsor:
University of Lausanne
Collaborating Sponsors:
University Hospital, Geneva
Conditions:
Diabetes Mellitus
Short Stature
Eligibility:
All Genders
18+ years
Phase:
NA
Brief 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 ...
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...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Inclusion criteria for controls:
- DT1
- \> 18 years old)
- Presence of at least one of the following auto-antibodies: anti-GAD65, anti-IAA, anti-ZnT8, anti-IA2 or ICA and/or low C-Peptide
- Insulin therapy by multiple daily injections or continuous subcutaneous insulin infusion by an insulin pump
- Informed consent as documented by signature
- Inclusion criteria for subjects:
- Mauriac syndrome
- DT1
- \> 18 years old
- Presence of hepatomegaly in infancy (confirmed ≥ 1 abdominal US) at the time of diagnosis of Mauriac Syndrome
- Presence of short stature during infancy at the time of diagnosis of Mauriac Syndrome (\<P3; WHO growth curves on ≥ 2 different measures, at 2 different time-points)
- Presence of at least one of the following auto-antibodies: anti-GAD65, anti-IAA, anti-ZnT8, anti-IA2 or ICA and/or low C-Peptide
- Informed consent as documented by signature
- Exclusion criteria for subjects and controls :
- Obesity (BMI ≥ 30 kg/m2 or \> 90th percentile)
- Illness that contraindicates physical activity
- Women who are pregnant or breast feeding
- Any clinically unstable disease
- Myocardial infarcts, syncope, heart rhythm disorder, unstable hypertension in the last 6 months
- Blood donation in the last 3 months for men and 4 months for women before the study
- Enrollment in a previous study less than 30 days before the start of the study
- Participation of the investigator, a family member, an employee or someone having a link with the investigator
Exclusion
Key Trial Info
Start Date :
January 17 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
December 30 2023
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT04275141
Start Date
January 17 2022
End Date
December 30 2023
Last Update
May 8 2024
Active Locations (2)
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1
Lausanne University Hospitals
Lausanne, Canton of Vaud, Switzerland, 1011
2
Geneva University Hospital
Geneva, Switzerland, 1205