Diabetes MellitusNCT04275141
Mauriac Syndrome: Isotopic Techniques and Genetic Analysis
A study testing oral glucose load and exercise test in people with Diabetes Mellitus and Short Stature, run by University of Lausanne at 2 sites in Switzerland.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Diabetes Mellitus, Short Stature, Glycogen Deposition
- What is being tested?
- oral glucose load and exercise test
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 2 sitesSwitzerland
- Study dates
- 17 Jan 2022to 30 Dec 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
- Mauriac syndrome
Show all 12Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country.
Switzerland2 sites
Geneva University Hospital
Geneva, 1205
Lausanne University Hospitals
Lausanne, Canton of Vaud, 1011
About this study
Official title: Genetic Analysis Coupled to Application of Isotopic Techniques to the Study of Mauriac Syndrome
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.
Read the 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
- Being tested
- oral glucose load, exercise test
- Medical subject headings
- Diabetes Mellitus, Dwarfism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
oral glucose loadOther
oral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min
exercise testOther
oral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min
| Study group | Role | What they receive |
|---|---|---|
| Mauriac syndrome | Other | An oral dose of glucose (labelled with 1% U-13C6-glucose) will be given at time 0 min followed by a 30-min cycling exercise at time 300 min. Receives: Other: oral glucose load; Other: exercise test |
| Type 1 diabetes mellitus | Other | An oral dose of glucose (labelled with 1% U-13C6-glucose) will be given at time 0 min followed by a 30-min cycling exercise at time 300 min. Receives: Other: oral glucose load; Other: exercise test |
What is being measured
The primary outcome is the main question the study is designed to answer.
In vivo kinetics of ingested glucose
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.
Measured: Time -90 minutes to Time 360 minutes
In vivo kinetics of endogenous glucose
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.
Measured: Time -90 minutes to Time 360 minutes
In vivo kinetics of lactate
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.
Measured: Time -90 minutes to Time 360 minutes
Secondary outcomes (1)
DNA Banking
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.
Measured: At inclusion period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Feb 2020
- Study start17 Jan 2022
- Primary completion31 Jul 2022
- Study completion30 Dec 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Diabetes MellitusStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- Case control study
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Lausanne
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital, Geneva
- Responsible party
- Principal investigator, Christel Tran, University of Lausanne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04275141
- Sponsor's protocol ID
- NCT2019-01755
- Status last verified
- May 2024
- First submitted
- 12 Feb 2020
- Last updated
- 8 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis Coupled to Application of Isotopic Techniques to the Study of Mauriac Syndrome
- ClinicalTrials.gov ID
- NCT04275141
- Acronym / sponsor ID
- NCT2019-01755
- Conditions
- Diabetes Mellitus, Short Stature, Glycogen Deposition
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- University of LausanneUniversity, hospital or other
- Collaborators
- University Hospital, Geneva
- Study start
- 17 Jan 2022 (actual)
- Primary completion
- 31 Jul 2022 (actual)
- Study completion
- 30 Dec 2023 (actual)
- First posted
- 19 Feb 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Case control study
| Arm | Type | Receives |
|---|---|---|
| Mauriac syndrome | Other | Other: oral glucose load, Other: exercise testAn oral dose of glucose (labelled with 1% U-13C6-glucose) will be given at time 0 min followed by a 30-min cycling exercise at time 300 min. |
| Type 1 diabetes mellitus | Other | Other: oral glucose load, Other: exercise testAn oral dose of glucose (labelled with 1% U-13C6-glucose) will be given at time 0 min followed by a 30-min cycling exercise at time 300 min. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (12 listed)
- 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
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| oral glucose loadoral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min | Other | Mauriac syndrome, Type 1 diabetes mellitus |
| exercise testoral glucose load (60g) followed by exercise at fixed wattage (60W) for 30 min | Other | Mauriac syndrome, Type 1 diabetes mellitus |
Primary outcome
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.
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.
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.
1 secondary outcome
DNA Banking
Time frame: At inclusion period
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing oral glucose load and exercise test in people with Diabetes Mellitus and Short Stature, run by University of Lausanne at 2 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
In vivo kinetics of ingested glucose (time frame: Time -90 minutes to Time 360 minutes). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 May 2024.