Type 1 Diabetes Mellitus, Genetic Predisposition to Disease
Conditions
Keywords
Type 1 diabetes mellitus, Children, Adolescent, Young adult, Genetic, Transcriptomic, Metabolomic, Lipidomic, Genetic risk score
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.
Interventions
GENETICGenome 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.
Sponsors
University Hospital, Geneva
University of Geneva, Switzerland
Pediatric Clinical Research Platform
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 25 Years
Healthy volunteers
Yes
Inclusion criteria
(Type 1 Diabetic patients): * Informed consent as documented by signature * Patient's age: between 0 and 25 years old. * Children, adolescents, and young adult patients followed in diabetology.
Exclusion criteria
(Type 1 Diabetic patients): * No
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
Switzerland
Contacts
Primary ContactValerie VS Schwitzgebel, MD
Backup ContactFanny FL Iafrate-Luterbacher, MD
Outcome results
None listed