Home › Trials › NCT06570278

Using whole genome sequencing to diagnose atypical diabetes

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

Not applicable Interventional Institut National de la Santé Et de la Recherche Médicale, France · NCT06570278

This study is testing if using whole genome sequencing can help doctors better diagnose unusual types of diabetes in adults compared to the usual method.

Quick facts

PhaseNot applicable
Study typeInterventional
Enrollment1020 (estimated)
Ages18 Years and up
SexAll
SponsorInstitut National de la Santé Et de la Recherche Médicale, France Government
Locations26 sites (Amiens and 25 other locations)
Trial IDNCT06570278 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 to 45 diagnosed with atypical diabetes and meeting specific inclusion criteria.

Not a fit: Patients with typical forms of diabetes or those outside the specified age and health criteria may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to more accurate diagnoses and tailored treatments for patients with atypical diabetes.

How similar studies have performed: Other studies have shown promise in using genomic sequencing for diabetes diagnosis, but this specific approach is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria 
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 this trial is running

Amiens and 25 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Diabetes MellitusNext generation sequencing genomeDiagnostic studyMedico-economic study
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.