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

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorInstitut National de la Santé Et de la Recherche Médicale, France

About this trial

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.

Eligibility criteria

Qualifiers

Subjects ≥18 years with confirmed diabetes mellitus according to WHO criteria (World Health Organization: Definition and diagnosis of diabetes mellitus and intermediate hyperglycemia: Report of a WHO/IDF Consultation. Geneva, World Health Org., 2006.)

Age ≤ 45 years at diabetes diagnosis

Body mass index ≤ 35 kg/m² at diabetes diagnosis

Negative results of specific antibodies determination (GAD65, IA2, ZnT8) until the inclusion visit

Disqualifiers

Pregnant or breastfeeding woman,

Any contraindication to the study exams including known allergies or contraindication to contrasts for the scan

Patient with known monogenic diabetes (defined as identification of class 4 and 5 variants according to ACMG)

First or second-degree relatives with monogenic diabetes established by molecular genetics (class 4 and 5 variants according to ACMG)

Trial design

Treatments tested in this trial

  • WGS coupled with MCM

Treatment groups

1,020 Participants
are divided into 2 treatment groups

Sponsors and collaborators

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

Lead sponsor

Commissariat A L'energie Atomique

Collaborator

Rennes University Hospital

Collaborator

Central Hospital, Nancy, France

Collaborator

Nantes University Hospital

Collaborator

Imagine Institute

Collaborator

APHP

Collaborator

Hospices Civils de Lyon

Collaborator

Université Lumière Lyon 2

Collaborator

University Hospital, Toulouse

Collaborator