GDM, Gestational Diabetes, Maturity-onset Diabetes of the Young, MODY
Conditions
Keywords
GDM, MODY, Genetic testing, Next Generation Sequencing, NGS
Brief summary
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
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.
Interventions
NGS Panel, Whole exome/genome sequencing
Sponsors
Imperial College London Diabetes Centre
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 50 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| GDM Identification | through study completion, an average of 2 year | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Novel diabetes genes | through study completion, an average of 2 year | Identifying novel diabetes genes in the Emirati women with GDM by performing whole exome sequencing. |
| Genetic test results validation | through study completion, an average of 2 year | 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. |
| Next Generation Sequencing (NGS) | through study completion, an average of 2 year | Next Generation Sequencing (NGS) technology will be applied to perform genetic testing, analysing 13 previously published MODY genes and potentially identifying novel causative mutations. |
| Prevalence of MODY | through study completion, an average of 2 year | Determining the prevalence of MODY in women with GDM in the UAE. |
| Clinical outcomes determination | through study completion, an average of 2 year | Determining the short and the long-term clinical outcomes of MODY in women with GDM in the UAE |
| Potential biomarkers | through study completion, an average of 2 year | Identifying potential biomarkers in women with MODY and who are developing GDM, to assist the selection of women suitable for genetic screening. |
Countries
United Arab Emirates
Contacts
Primary ContactHinda Daggag, PhD
Outcome results
None listed