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NCT Number: NCT04275141

Mauriac Syndrome: Isotopic Techniques and Genetic Analysis

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.

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Key information

Conditions

Diabetes Mellitus Bone Diseases Bone Diseases, Developmental Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dwarfism Endocrine System Diseases Genetic Diseases, Inborn Glucose Metabolism Disorders Glycogen Deposition Metabolic Diseases Musculoskeletal Diseases Nutritional and Metabolic Diseases Short Stature

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Lausanne University Hospitals, Lausanne, Canton of Vaud, Switzerland

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About this study

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.

Who can participate

Healthy volunteers accepted: No

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

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

Treatment and study plan

oral glucose load

Other

oral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min

Exercise test

Other

oral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min

Primary outcomes

  1. In vivo kinetics of ingested glucose

    Time frame: Time -90 minutes to Time 360 minutes

    Plasma glucose kinetics [Time -90 min before ingestion of a test meal to Time 360 min after ingestion of a test meal]

    • Baseline : [Time -90min to Time 0min]
    • After an oral glucose load (60g): [Time 0min to Time 300min]
    • During exercise at fixed wattage (60W) for 30 min: [Time 300 min to Time 330 min]
    • After exercise for 30 min [Time 330 min to Time 360 min]

    Trial stable isotope tracers ([U-13C6] glucose ingestion, will be used to assess ingested glucose flux at baseline and during the test.

  2. In vivo kinetics of endogenous glucose

    Time frame: Time -90 minutes to Time 360 minutes

    Plasma glucose kinetics [Time -90 min before ingestion of a test meal to Time 360 min after ingestion of a test meal]

    • Baseline : [Time -90min to Time 0min]
    • After an oral glucose load (60g): [Time 0min to Time 300min]
    • During exercise at fixed wattage (60W) for 30 min: [Time 300 min to Time 330 min]
    • After exercise for 30 min [Time 330 min to Time 360 min]

    Trial stable isotope tracers [6,6-2H2] glucose infusion will be used to assess endogenous glucose flux at baseline and during the test.

  3. In vivo kinetics of lactate

    Time frame: Time -90 minutes to Time 360 minutes

    Plasma lactate kinetics [Time -90 min before ingestion of a test meal to Time 360 min after ingestion of a test meal]

    • Baseline : [Time -90min to Time 0min]
    • After an oral glucose load (60g): [Time 0min to Time 300min]
    • During exercise at fixed wattage (60W) for 30 min: [Time 300 min to Time 330 min]
    • After exercise for 30 min [Time 330 min to Time 360 min]

    Trial stable isotope tracers [1-13C1]lactate infusion will be used to assess lactate flux at baseline and during the test.

Secondary outcomes

  1. DNA Banking

    Time frame: At inclusion period

    10 ml of whole blood will be collected, at baseline, in two tubes EDTA 5ml for DNA extraction and banking in view of next generation sequencing (NGS) analysis.

Sponsors and collaborators

Lead sponsor

University of Lausanne

Other

Collaborators

  • University Hospital, Geneva

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2022
Study completion
2023
First posted
Feb 19, 2020
Registry last updated
May 8, 2024

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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