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| Name | Class |
|---|---|
| University Hospital, Geneva | OTHER |
| University of Geneva, Switzerland | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Case | 100 patients followed in pediatric diabetology at the university hospital of Geneva: a cohort |
| |
| Control | 50 control patients |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genome sequencing | Genetic | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Cluster analysis to decipher underlying mechanisms of type 1 diabetes | 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. | blood sampling and analyses |
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Inclusion Criteria (Type 1 Diabetic patients):
Exclusion Criteria (Type 1 Diabetic patients):
Inclusion Criteria (Controls):
Exclusion Criteria (Controls):
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Children, adolescents, and young adults followed at the pediatric diabetology unit of the University Hospital of Geneva.
Controls Children, adolescents, and young adults coming for a routine blood sample at University Hospital of Geneva
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Valerie VS Schwitzgebel, MD | Contact | +41 22 372 45 90 | valerie.schwitzgebel@unige.ch | |
| Fanny FL Iafrate-Luterbacher, MD | Contact | +41 78 603 06 92 | fanny.luterbacher@hcuge.ch |
| Name | Affiliation | Role |
|---|---|---|
| Valerie VS Schwitzgebel, MD | University Hospital of Geneva / University of Geneva | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital of Geneva | Recruiting | Geneva | 1205 | Switzerland |
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| ID | Term |
|---|---|
| D003922 | Diabetes Mellitus, Type 1 |
| D020022 | Genetic Predisposition to Disease |
| D000096442 | Genetic Risk Score |
| ID | Term |
|---|---|
| D003920 | Diabetes Mellitus |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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Blood
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| D004700 | Endocrine System Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |