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Clinical Trials in France / NCT06570278
Recruiting Not applicable

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

NCT06570278 · tracked via the Priya Life Science France tracker
Phase
Not applicable
Started
2024-10-30
Last updated
2026-04-09

Condition(s) studied

Diabetes Mellitus

Investigational drug(s) / intervention(s)

WGS coupled with MCM

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.

Study 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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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).

Primary outcome measure(s)

Trial sites (26)

FacilityCityRegionStatus
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
University Hospital Bocage Dijon France Recruiting
University Hospital Michallon Grenoble France Recruiting
Assistance Publique Hôpitaux de Paris, Bicêtre Hospital Le Kremlin-Bicêtre France Not Yet Recruiting
University Hospital Louis Pradel Lyon France Recruiting
University Hospital Sud Lyon France Recruiting
University Hospital Conception Marseille France Recruiting
University Hospital Lapeyronie Montpellier France Recruiting
University Hospital Nancy France Not Yet Recruiting
University Hospital Laennec Nantes France Recruiting
University Hospital L'Archet Nice France Not Yet Recruiting
Assistance Publique Hôpitaux de Paris, Bichat - Claude Bernard Hospital Paris France Recruiting
Assistance Publique Hôpitaux de Paris, Cochin Hospital Paris France Recruiting
Assistance Publique Hôpitaux de Paris, Lariboisière Hospital Paris France Recruiting
Assistance Publique Hôpitaux de Paris, Saint Antoine Hospital Paris France Recruiting
Assistance Publique Hôpitaux de Paris- La Pitié Salpêtrière Hospital Paris France Recruiting
University Hospital Poitiers France Not Yet Recruiting
Rennes University Hospital Rennes France Recruiting
University Hospital Bois Guillaume Rouen France Recruiting
Strasbourg University Hospital Strasbourg France Recruiting
University Hospital Rangueil Toulouse France Recruiting

More Institut National de la Santé Et de la Recherche Médicale, France trials in France

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06570278 on ClinicalTrials.gov ↗ ← All trials in France