Actively Recruiting

Phase Not Applicable
Age: 18Years +
All Genders
NCT06570278

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

Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2026-04-09

1020

Participants Needed

26

Research Sites

522 weeks

Total Duration

On this page

Sponsors

I

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

Lead Sponsor

C

Commissariat A L'energie Atomique

Collaborating Sponsor

AI-Summary

What this Trial Is About

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

Official Title

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

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults aged 18 years or older with confirmed diabetes mellitus according to WHO criteria
  • Diabetes diagnosis at age 45 years or younger
  • Body mass index of 35 kg/m² or less at diabetes diagnosis
  • Negative results for specific antibodies (GAD65, IA2, ZnT8) before inclusion
  • Presence of atypical diabetes defined by at least one of the following: exocrine pancreatic disease, family history of diabetes in parent, child or sibling, familial consanguinity, syndromic features (dysmorphy, developmental delay, mental retardation), early microvascular complications within 5 years of diagnosis, major insulin deficiency at diagnosis (C peptide < 0.2 nmol/L or documented ketosis), or need for insulin therapy within the first year after diagnosis due to treatment failure despite preserved insulin secretion
  • Willingness to comply with all study procedures and availability for the study duration
  • Possession of a social security number in compliance with French law
  • Signed and dated informed consent form
Not Eligible

You will not qualify if you...

  • Pregnant or breastfeeding women
  • Any contraindication to study exams, including allergies or contraindication to contrast used in scans
  • Known monogenic diabetes diagnosed by molecular genetics (class 4 and 5 variants)
  • First or second-degree relatives with established monogenic diabetes by molecular genetics
  • Known secondary diabetes due to endocrine disorders, pancreatectomy, or drug-induced causes
  • History of bone marrow transplant
  • Any condition judged by the investigator to make participation undesirable or likely to affect protocol compliance
  • Individuals under legal protection (sauvegarde de justice)

AI-Screening

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Trial Site Locations

Total: 26 locations

1

University Hospital

Amiens, France

Actively Recruiting

2

University Hospital

Angers, France

Actively Recruiting

3

University Hospital Jean Minjoz

Besançon, France

Actively Recruiting

4

University Hospital Haut Lévêque

Bordeaux, France

Actively Recruiting

5

University Hospital Cavale Blanche

Brest, France

Actively Recruiting

6

Centre Hospitalier Sud Francilien

Corbeil-Essonnes, France

Actively Recruiting

7

University Hospital Bocage

Dijon, France

Actively Recruiting

8

University Hospital Michallon

Grenoble, France

Actively Recruiting

9

Assistance Publique Hôpitaux de Paris, Bicêtre Hospital

Le Kremlin-Bicêtre, France

Not Yet Recruiting

10

University Hospital Louis Pradel

Lyon, France

Actively Recruiting

11

University Hospital Sud

Lyon, France

Actively Recruiting

12

University Hospital Conception

Marseille, France

Actively Recruiting

13

University Hospital Lapeyronie

Montpellier, France

Actively Recruiting

14

University Hospital

Nancy, France

Not Yet Recruiting

15

University Hospital Laennec

Nantes, France

Actively Recruiting

16

University Hospital L'Archet

Nice, France

Not Yet Recruiting

17

Assistance Publique Hôpitaux de Paris, Bichat - Claude Bernard Hospital

Paris, France

Actively Recruiting

18

Assistance Publique Hôpitaux de Paris, Cochin Hospital

Paris, France

Actively Recruiting

19

Assistance Publique Hôpitaux de Paris, Lariboisière Hospital

Paris, France

Actively Recruiting

20

Assistance Publique Hôpitaux de Paris, Saint Antoine Hospital

Paris, France

Actively Recruiting

21

Assistance Publique Hôpitaux de Paris- La Pitié Salpêtrière Hospital

Paris, France

Actively Recruiting

22

University Hospital

Poitiers, France

Not Yet Recruiting

23

Rennes University Hospital

Rennes, France

Actively Recruiting

24

University Hospital Bois Guillaume

Rouen, France

Actively Recruiting

25

Strasbourg University Hospital

Strasbourg, France

Actively Recruiting

26

University Hospital Rangueil

Toulouse, France

Actively Recruiting

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Research Team

J

Jean-François Gautier

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

RANDOMIZED

Model

PARALLEL

Primary Purpose

DIAGNOSTIC

Number of Arms

2

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