METYDIA: Mechanisms of Type 1 Diabetes Endophenotypes
Study Details
Study Description
Brief Summary
The goal of this observational study consists of performing cluster analysis to decipher underlying disease mechanisms of type 1 diabetes in children and young adults.
To this end, we will combine clinical, laboratory, genetic, transcriptomic, and metabolomic datasets of an extensively phenotyped cohort of children and young adults with type 1 diabetes. We will also assess the risk for cardiovascular diseases in this most vulnerable diabetes cohort.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Case 100 patients followed in pediatric diabetology at the university hospital of Geneva: a cohort |
Genetic: Genome sequencing
100 extensively phenotyped pediatric and young adult patients for genotyping, metabolomic and lipidomic analyses. Polygenic risk scores for type 1 diabetes and cardiovascular disease will be performed.
For patients older than 6 years who agree to do a second visit (optional), a Mixed Meal Tolerance Test (MMTT: the gold standard for assessing beta cell function) will be done as well as transcriptomic analysis.
Other Names:
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| Control 50 control patients |
Genetic: Genome sequencing
100 extensively phenotyped pediatric and young adult patients for genotyping, metabolomic and lipidomic analyses. Polygenic risk scores for type 1 diabetes and cardiovascular disease will be performed.
For patients older than 6 years who agree to do a second visit (optional), a Mixed Meal Tolerance Test (MMTT: the gold standard for assessing beta cell function) will be done as well as transcriptomic analysis.
Other Names:
|
Outcome Measures
Primary Outcome Measures
- Cluster analysis to decipher underlying mechanisms of type 1 diabetes [blood sampling and analyses]
We will combine clinical, laboratory, genetic, transcriptomic, and metabolomic datasets of an extensively phenotyped cohort of type 1 diabetes patients (Children and young adults). We will create clinical and genetic correlates with the following clinical parameters: Age at diabetes onset (years), disease duration (years), BMI (kg/m2), diabetes autoantibodies, C-peptide level (pmol/l) and decline over time, HbA1c (%), insulin dose (U/kg/d), ketoacidosis at disease onset (y/n), lipid levels (Total cholesterol, triglycerides, HLD, LDL, Lipoprotein(a)), macro- and microvascular complications, ethnicity, family history for diabetes, associated autoimmune diseases (e.g., autoimmune thyroiditis or celiac disease) and mixed meal tolerance test.
Eligibility Criteria
Criteria
Inclusion Criteria (Type 1 Diabetic patients):
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Informed consent as documented by signature
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Patient's age: between 0 and 25 years old.
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Children, adolescents, and young adult patients followed in diabetology.
Exclusion Criteria (Type 1 Diabetic patients):
- No exclusion criteria
Inclusion Criteria (Controls):
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Informed consent as documented by signature
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Patient's age: 25 less than 6 years of age and 25 between 6 and 25 years old.
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Healthy patient
Exclusion Criteria (Controls):
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Patient receiving treatment affecting metabolic control (ex: systemic corticoids, beta blocker, immunotherapy etc.)
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Concomitant disease that may affect the analysis of the results (ex: cancer, active autoimmune disease requiring treatment)
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University Hospital of Geneva | Geneva | Switzerland | 1205 |
Sponsors and Collaborators
- Pediatric Clinical Research Platform
- University Hospital, Geneva
- University of Geneva, Switzerland
Investigators
- Principal Investigator: Valerie VS Schwitzgebel, MD, University Hospital of Geneva / University of Geneva
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2022-02119