Using whole genome sequencing to diagnose atypical diabetes

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to evaluate the effectiveness of whole genome sequencing (WGS) combined with a multidisciplinary conciliation meeting (MCM) in diagnosing atypical forms of diabetes. It compares this approach to the current standard practice of in-silico analysis of a panel of validated genes. The study will follow 1020 adults with atypical diabetes over a period of five years to assess the feasibility and impact of WGS on identifying genetic alterations and modifying patient care. Participants will be randomly assigned to either the WGS with MCM group or the standard care group.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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
* Presenting atypical diabetes defined by at least one of the following:
* Exocrine pancreatic disease
* Familial history: diabetes diagnosed in a parent, child or sibling
* Notion of familial consanguinity
* Syndromic clinical features (dysmorphy, developmental delay, mental retardation…) or unusual abnormalities/features that are not part of diabetic complications or co-morbidities;
* Early occurrence of microvascular complications (≤ 5 years after diabetes diagnosis)
* Major insulinopenia at diagnosis (C peptide \< 0.2 nmol/L and/or documented ketosis)
* Patient who conserved endogenous insulin secretion (positive C peptide value) but a need for insulin therapy initiation during the first year following diagnosis due to therapeutic failure of well conducted therapeutic intensification
* Stated willingness to comply with all study procedures and availability for the duration of the study
* Patient with a social security number in compliance with the French law (dispositions relatives aux recherches impliquant la personne humaine prévues aux articles L 1121-1 et suivants du Code de la Santé Publique)
* Signed and dated informed consent form

Exclusion Criteria:

* 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)
* Patient with known secondary diabetes (i.e. endocrine disorders such as Cushing syndrome, pancreatectomy, drug-induced diabetes)
* Patient who had a bone marrow transplant
* Any condition which in the Investigator's opinion makes it undesirable for the subject to participate in the trial or which would jeopardize compliance with the protocol,
* Individuals under legal protection (sauvegarde de justice).

Where it's running

• University Hospital
  Amiens, France Recruiting
• University Hospital
  Angers, France Recruiting
• University Hospital Jean Minjoz
  Besançon, France Recruiting
• University Hospital Haut Lévêque
  Bordeaux, France Recruiting
• University Hospital Cavale Blanche
  Brest, France Recruiting
• Centre Hospitalier Sud Francilien
  Corbeil-Essonnes, France Recruiting

Study contacts

• Principal investigator: Jean-François GAUTIER — Institut National de la Santé Et de la Recherche Médicale, France
• Study coordinator: Jean-François Gautier
• Email: jean-francois.gautier@aphp.fr
• Phone: +33 01 49 95 90 20

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.