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.
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.
Study Type
OBSERVATIONAL
Enrollment
600
NGS Panel, Whole exome/genome sequencing
Imperial College London Diabetes Centre
Abu Dhabi, United Arab Emirates
RECRUITINGGDM 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.
Time frame: through study completion, an average of 2 year
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: through study completion, an average of 2 year
Prevalence of MODY
Determining the prevalence of MODY in women with GDM in the UAE.
Time frame: through study completion, an average of 2 year
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Clinical outcomes determination
Determining the short and the long-term clinical outcomes of MODY in women with GDM in the UAE
Time frame: through study completion, an average of 2 year