Genetic Causes of Gestational Diabetes in the Emirati Population

Study Overview
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Brief Summary
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The study aims to identify the number of MODY patients to be found among Emirati women with GDM as the incidence and prevalence of monogenic diabetes among this group of patients is unknown. This will enable improvements in diagnostics, treatment and the counselling of these women.

Detailed Description
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The present study aims to perform systematic genetic screening of genes known as the cause of MODY in women diagnosed with gestational diabetes to estimate the prevalence of MODY. This is important to understand the extent to which monogenic diabetes is encountered for the first time during pregnancy. Once women with MODY developing GDM have been identified, biomarkers to identify these women can be found which will assist the clinical process of performing genetic screening in the right subset of patients. Also for the women participating in the present study, this is of great importance as correct genetic diagnosis will provide them with the needed information to receive optimal treatment, correct plan for follow-up and a more accurate prognosis in relation to risk of future complication and therefore prevention of such.

Official Title
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Genetic Causes of Gestational Diabetes in the Emirati Population

Conditions
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Gestational Diabetes, GDM, Maturity-onset Diabetes of the Young, MODY

Intervention / Treatment
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* Genetic: Next generation sequencing (NGS)


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Currently pregnant women diagnosed with GDM. Women with history of GDM (with negative GAD/IA2 antibodies if results available). Exclusion Criteria: Women with positive GAD/IA2 antibodies (if results available) Women genetically diagnosed as MODY

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| GDM Current<br>Currently pregnant women diagnosed with GDM. Next generation sequencing (NGS) methodologies will used on individuals suspected of genetic diabetes. | Genetic: Next generation sequencing (NGS)<br>* NGS Panel, Whole exome/genome sequencing<br>|
| GDM History<br>Women with history of GDM (with negative GAD/IA2 antibodies if results available). Next generation sequencing (NGS) methodologies will used on individuals suspected of genetic diabetes. | Genetic: Next generation sequencing (NGS)<br>* NGS Panel, Whole exome/genome sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| GDM Identification | Identifying individuals with history of GDM or current diagnosis of GDM and analysing their GTT results and likelihood of MODY. GTT results will be extracted from patient's medical records. | through study completion, an average of 2 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Next Generation Sequencing (NGS) | Next Generation Sequencing (NGS) technology will be applied to perform genetic testing, analysing 13 previously published MODY genes and potentially identifying novel causative mutations. | through study completion, an average of 2 year | 
| Novel diabetes genes | Identifying novel diabetes genes in the Emirati women with GDM by performing whole exome sequencing. | through study completion, an average of 2 year | 
| Genetic test results validation | Validating positive genetic test results by performing mutational analysis on parental, siblings and relatives samples. Request from parents, siblings and/or relatives to participate in the study will only occur if a novel (potentially pathogenic mutation) is identified and the primary participant agrees to it. | through study completion, an average of 2 year | 
| Potential biomarkers | Identifying potential biomarkers in women with MODY and who are developing GDM, to assist the selection of women suitable for genetic screening. | through study completion, an average of 2 year | 
| Prevalence of MODY | Determining the prevalence of MODY in women with GDM in the UAE. | through study completion, an average of 2 year | 
| Clinical outcomes determination | Determining the short and the long-term clinical outcomes of MODY in women with GDM in the UAE | through study completion, an average of 2 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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GDM, MODY, Genetic testing, Next Generation Sequencing, NGS