Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes

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.

Conditions

• Diabetes Mellitus

Interventions

DIAGNOSTIC_TEST

WGS coupled with MCM

Whole genome will be screened and analysis will focus on pathogenic and likely pathogenic variants. The list of variants of interest will be recorded until examination and discussion during the MCM. MCM will edit a final synthesis concerning the pathogenicity of identified variants.

Sponsors & Collaborators

• APHP

  collaborator OTHER

• Commissariat A L'energie Atomique

  collaborator OTHER_GOV

• Rennes University Hospital

  collaborator OTHER

• Central Hospital, Nancy, France

  collaborator OTHER

• Nantes University Hospital

  collaborator OTHER

• Imagine Institute

  collaborator OTHER

• Hospices Civils de Lyon

  collaborator OTHER

• Université Lumière Lyon 2

  collaborator OTHER

• University Hospital, Toulouse

  collaborator OTHER

• Institut National de la Santé Et de la Recherche Médicale, France

  lead OTHER_GOV

Principal Investigators

• Jean-François GAUTIER · Institut National de la Santé Et de la Recherche Médicale, France

Study Design

Allocation

RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2024-10-30

Primary Completion

2031-11-30

Completion

2034-11-30

Countries

• France

Study Locations