Ignite Creation Date:
2024-10-26 @ 3:38 PM
Last Modification Date:
2024-10-26 @ 3:38 PM
Study NCT ID:
NCT06570278
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-02-02
Brief Title:
Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GLUCOGEN
Brief Summary:
The main objective of the study is to assess the contribution of whole genome sequencing WGS coupled with a multidisciplinary conciliation meeting MCM on diagnosis of atypical forms of diabetes compared to an in-silico analysis of a panel of validated genes ISApanel corresponding to current practice in a randomized trial
Notably the questions it aims to answer are
The feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes
The contribution of WGS coupled with MCM on number of genetic alterations likely causal of diabetes identified and with a modification in care and support of patients
After inclusion and sampling for genotyping patients will be followed for 5 years
The target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample
Notably the questions it aims to answer are
The feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes
The contribution of WGS coupled with MCM on number of genetic alterations likely causal of diabetes identified and with a modification in care and support of patients
After inclusion and sampling for genotyping patients will be followed for 5 years
The target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample
Detailed Description:
The prevalence of diabetes is 74 in France among people aged 20 to 79 years in 2015 We must also consider 34pre-diabetes34 subjects with glucose intolerance whose prevalence is equivalent to that of diabetes 2012 estimate The incidence of diabetes is exploding both for type 2 diabetes which represents 85 of diabetes and for type 1 diabetes which represents 10 of cases and starts one out of two times before the age of 20 Diabetes typing is essential to guide therapeutic choices particularly the use of insulin This typing is based on the pathophysiology of the disease distinguishing insulinopenia from autoimmune causes in type 1 diabetes monogenic diabetes secondary or atypical diabetes and type 2 diabetes where insulinopenia and insulin resistance coexist Thus while a formal biological diagnosis is possible for some forms of atypical diabetes and for type 1 diabetes no biological parameter is currently available for type 2 diabetes which remains a diagnosis of exclusion As a result diabetes represents a source of diagnostic and therapeutic erraticism amplified by the clinical heterogeneity of type 2 diabetes which is obvious and underestimated and by a clinical phenotyping of patients that is often defective The economic consequences are important because the health costs are very different depending on whether or not patients are treated with insulin Type 1 and type 2 diabetes are examples of chronic non-transmissible multigenic multifactorial diseases However less than 10 of the heritability of type 2 diabetes is currently explained by the associated genetic variants And although genetic tests exist to diagnose certain monogenic diabetes this diagnosis is made in less than 20 of cases mainly in the presence of an atypical clinical presentation of diabetes Moreover there is no reason to rule out the hypothesis of paucigenic forms at the interface of monogenic diabetes and multigenic forms as usually envisaged as has been observed in chronic pancreatitis which is also accompanied by diabetes
The study will be conducted according to a randomized trial design comparing two diagnostic strategies defined as follows
Control strategy in silico analysis of a panel of validated genes ISApanel - Diabetome 1 Patients recruited along the control procedure will stay in their group using current genetic diagnosis practices and standard of care that may differ from one center to another
Intervention strategy whole genome sequencing coupled with multidisciplinary conciliation meeting
We plan to randomize one patient in the control group for two in the intervention group
The main objective of the study is to assess the contribution of whole genome sequencing WGS coupled with a multidisciplinary conciliation meeting MCM on diagnosis of atypical forms of diabetes compared to an in-silico analysis of a panel of validated genes ISApanel corresponding to current practice
The target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample
The study will be conducted according to a randomized trial design comparing two diagnostic strategies defined as follows
Control strategy in silico analysis of a panel of validated genes ISApanel - Diabetome 1 Patients recruited along the control procedure will stay in their group using current genetic diagnosis practices and standard of care that may differ from one center to another
Intervention strategy whole genome sequencing coupled with multidisciplinary conciliation meeting
We plan to randomize one patient in the control group for two in the intervention group
The main objective of the study is to assess the contribution of whole genome sequencing WGS coupled with a multidisciplinary conciliation meeting MCM on diagnosis of atypical forms of diabetes compared to an in-silico analysis of a panel of validated genes ISApanel corresponding to current practice
The target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None