Status:
RECRUITING
Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes
Lead Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Collaborating Sponsors:
Commissariat A L'energie Atomique
Rennes University Hospital
Conditions:
Diabetes Mellitus
Eligibility:
All Genders
18+ years
Phase:
NA
Brief 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 co...
Detailed Description
The prevalence of diabetes is 7.4% in France among people aged 20 to 79 years in 2015. We must also consider \"pre-diabetes\" (subjects with glucose intolerance), whose prevalence is equivalen...
Eligibility Criteria
Inclusion
- 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 first degree relatives from at least 2 generations
- 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
- 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)
- 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).
Key Trial Info
Start Date :
October 30 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
November 1 2034
Estimated Enrollment :
1020 Patients enrolled
Trial Details
Trial ID
NCT06570278
Start Date
October 30 2024
End Date
November 1 2034
Last Update
January 21 2025
Active Locations (26)
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1
University Hospital
Amiens, France
2
University Hospital
Angers, France
3
University Hospital Jean Minjoz
Besançon, France
4
University Hospital Haut Lévêque
Bordeaux, France