Diabetes MellitusGLUCOGENNCT06570278
Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes
A study testing WGS coupled with MCM in people with Diabetes Mellitus, run by Institut National de la Santé Et de la Recherche Médicale, France at 26 sites in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Diabetes Mellitus
- What is being tested?
- WGS coupled with MCM
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,020 participants
- Where
- 26 sitesFrance
- Study dates
- 30 Oct 2024to Nov 2034
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Show all 15Show fewer
- 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
Who cannot join
- 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).
Trial locations and contacts
26 sites in 1 country. Contact the study team or a site near you to ask about taking part.
26 sites in 1 country
France26 sites, 26 recruiting
- Recruiting
University Hospital
Amiens
Abdallah AL SALAMEH, 333 22 45 58 89, Al-Salameh.Abdallah@chu-amiens.fr
Abdallah AL SALAMEH
- Recruiting
University Hospital
Angers
Ingrid ALLIX, 332 41 35 42 40, ingrid.allix@chu-angers.fr
Ingrid ALLIX
- Recruiting
University Hospital Jean Minjoz
Besançon
Sophie BOROT, 333 81 66 87 88, sophie.borot@univ-fcomte.fr
Sophie BOROT
- Recruiting
University Hospital Haut Lévêque
Bordeaux
Vincent RIGALLEAU, 335 57 65 69 14, vincent.rigalleau@chu-bordeaux.fr
Vincent RIGALLEAU
- Recruiting
University Hospital Cavale Blanche
Brest
Philippe THUILLIER, 332 98 22 33 33, philippe.thuillier@chu-brest.fr
Philippe THUILLIER
- Recruiting
Centre Hospitalier Sud Francilien
Corbeil-Essonnes
Coralie AMADOU, 331 61 69 34 27, coralie.amadou@gmail.com
Coralie AMADOU
- Recruiting
University Hospital Bocage
Dijon
Bruno VERGES, 333 80 29 34 53, bruno.verges@chu-dijon.fr
Bruno VERGES
- Recruiting
University Hospital Michallon
Grenoble
Sandrine LABLANCHE, 334 76 76 55 09, slablanche@chu-grenoble.fr
Sandrine LABLANCHE
- Not yet recruiting
Assistance Publique Hôpitaux de Paris, Bicêtre Hospital
Le Kremlin-Bicêtre
Jacques YOUNG, jacques.young@aphp.fr
Jacques YOUNG
- Recruiting
University Hospital Louis Pradel
Lyon
Sybil CHARRIERE, 330 27 85 77 86, sybil.charriere@chu-lyon.fr
Sybil CHARRIERE
- Recruiting
University Hospital Sud
Lyon
Emmanuel DISSE, 334 78 86 19 40, emmanuel.disse@chu-lyon.fr
Emmanuel DISSE
- Recruiting
University Hospital Conception
Marseille
Patrice DARMON, 334 91 38 41 22, patrice.darmon@ap-hm.fr
Patrice DARMON
- Recruiting
University Hospital Lapeyronie
Montpellier
Ariane SULTAN, 334 67 33 84 02, a-sultan@chu-montpellier.fr
Ariane SULTAN
- Not yet recruiting
University Hospital
Nancy
Bruno GUERCI, 333 83 15 55 63, b.guerci@chru-nancy.fr
Bruno GUERCI
- Recruiting
University Hospital Laennec
Nantes
Samy HADJADJ, 332 53 48 27 29, samy.hadjadj@univ-nantes.fr
Samy HADJADJ
- Not yet recruiting
University Hospital L'Archet
Nice
Nicolas CHEVALIER, 334 92 03 55 19, chevalier.n@chu-nice.fr
Nicolas CHEVALIER
- Recruiting
Assistance Publique Hôpitaux de Paris, Bichat - Claude Bernard Hospital
Paris
Louis POTIER, 331 40 25 88 80, louis.potier@aphp.fr
Louis POTIER
- Recruiting
Assistance Publique Hôpitaux de Paris, Cochin Hospital
Paris
Danièle DUBOIS-LAFORGUE, 331 58 41 33 71, daniele.dubois@aphp.fr
Danièle DUBOIS-LAFORGUE
- Recruiting
Assistance Publique Hôpitaux de Paris, Lariboisière Hospital
Paris
Jean-François GAUTIER, 331 49 95 90 20, jean-francois.gautier@aphp.fr
Jean-François GAUTIER
- Recruiting
Assistance Publique Hôpitaux de Paris, Saint Antoine Hospital
Paris
Camille VATIER, 331 49 28 24 07, camille.vatier@aphp.fr
Camille VATIER
- Recruiting
Assistance Publique Hôpitaux de Paris- La Pitié Salpêtrière Hospital
Paris
Cécile CIANGURA, 331 42 17 80 51, cecile.ciangura@aphp.fr
Cécile CIANGURA
- Not yet recruiting
University Hospital
Poitiers
Héléna MOSBAH, helena.mosbah@chu-poitiers.fr
Héléna MOSBAH
- Recruiting
Rennes University Hospital
Rennes
Agathe GUENEGO, 332 99 26 71 42, agathe.guenego@chu-rennes.fr
Agathe GUENEGO
- Recruiting
University Hospital Bois Guillaume
Rouen
Gaetan PREVOST, 332 32 88 92 55, gaetan.prevost@chu-rouen.fr
Gaetan PREVOST
- Recruiting
Strasbourg University Hospital
Strasbourg
Laurent MEYER, +33 03 88 12 77 21, laurent.meyer@chru-strasbourg.fr
Laurent MEYER
- Recruiting
University Hospital Rangueil
Toulouse
Pierre GOURDY, 335 61 32 33 61, pierre.gourdy@inserm.fr
Pierre GOURDY
About this study
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:
Read more
- 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.
Read the 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 equivalent to that of diabetes (2012 estimate). The incidence of diabetes is exploding both for type 2 diabetes, which represents 85% of diabetes, and for type 1 diabetes, which represents 10% of cases and starts one out of two times before the age of 20. Diabetes typing is essential to guide therapeutic choices, particularly the use of insulin. This typing is based on the pathophysiology of the disease, distinguishing insulinopenia from autoimmune causes in type 1 diabetes, monogenic diabetes, secondary or atypical diabetes and type 2 diabetes, where insulinopenia and insulin resistance coexist. Thus, while a formal biological diagnosis is possible for some forms of atypical diabetes and for type 1 diabetes, no biological parameter is currently available for type 2 diabetes, which remains a diagnosis of exclusion. As a result, diabetes represents a source of diagnostic and therapeutic erraticism, amplified by the clinical heterogeneity of type 2 diabetes, which is obvious and underestimated, and by a clinical phenotyping of patients that is often defective. The economic consequences are important because the health costs are very different depending on whether or not patients are treated with insulin. Type 1 and type 2 diabetes are examples of chronic, non-transmissible, multigenic, multifactorial diseases. However, less than 10% of the heritability of type 2 diabetes is currently explained by the associated genetic variants. And although genetic tests exist to diagnose certain monogenic diabetes, this diagnosis is made in less than 20% of cases, mainly in the presence of an atypical clinical presentation of diabetes. Moreover, there is no reason to rule out the hypothesis of paucigenic forms, at the interface of monogenic diabetes and multigenic forms as usually envisaged, as has been observed in chronic pancreatitis, which is also accompanied by diabetes.
The study will be conducted according to a randomized trial design comparing two diagnostic strategies defined as follows:
- Control strategy: in silico analysis of a panel of validated genes (ISApanel - Diabetome 1). Patients recruited along the control procedure will stay in their group using current genetic diagnosis practices and standard of care that may differ from one center to another.
- Intervention strategy: whole genome sequencing coupled with multidisciplinary conciliation meeting.
We plan to randomize one patient in the control group for two in the intervention group.
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.
The target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample.
- Conditions
- Diabetes Mellitus
- Being tested
- WGS coupled with MCM
- Keywords
- Next generation sequencing genome, Diagnostic study, Medico-economic study
- Medical subject headings
- Diabetes Mellitus, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
WGS coupled with MCMDiagnostic test
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 group | Role | What they receive |
|---|---|---|
| control procedure | No intervention | In-silico analysis of a panel of validated genes (ISApanel). Patients recruited along control procedure will stay in their arm using current genetic diagnosis practices and standard of care that may differ from one center to another |
| intervention procedure | Experimental | WGS coupled with MCM Receives: Diagnostic Test: WGS coupled with MCM |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with one or several genetic alterations likely causal of diabetes
Number of patients in each group with one or several genetic alterations likely causal of diabetes
Measured: At 6 months in control group and 12 months in interventional group
Secondary outcomes (28)
Number of patients with an impact on treatment modification
Number of patients in each group with an impact on treatment modification including discontinuation and reason of this modification
Measured: 5 years
Number of genetic alterations likely causal of diabetes
Number of genetic alterations likely causal of diabetes (classified as class 4 or 5 variants)
Measured: At 6 months in control group and 12 months in interventional group
Feasibility of the whole genome sequencing (WGS) coupled with multidisciplinary conciliation meeting (MCM) on diagnosis of atypical forms of diabetes: time to access to the genetic data
time between blood sampling and availability of genetic data by GLUCOGEN laboratories
Measured: At 6 months in control group and 12 months in interventional group
Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and MCM
time between blood sampling and MCM
Measured: At 6 months in control group and 12 months in interventional group
Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and access to WGS report
time between blood sampling and access to WGS report produced by GLUCOGEN laboratory
Measured: At 6 months in control group and 12 months in interventional group
Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and date of the WGS result visit
time between blood sampling and date of the WGS result visit
Measured: 5 years
Genotype-Insulin secretion phenotype association
Genotype-phenotype associations corresponding to insulin secretion
Measured: At 6 months in control group and 12 months in interventional group
Genotype-Insulin sensitivity phenotype association
Genotype-phenotype associations corresponding to insulin sensitivity
- Body composition
Measured: At 6 months in control group and 12 months in interventional group
Genotype-body composition phenotype association
Genotype-phenotype associations corresponding to body composition
Measured: At 6 months in control group and 12 months in interventional group
Glycemic control without insulin treatment
Percentage of patients with glycated hemoglobin (HbA1c) target below 7% without insulin treatment at 2, 3, 4 and 5 years
Measured: 5 years
Glycemic control without severe hypoglycemia
Percentage of patients with glycated hemoglobin (HbA1c) target below 7% without severe hypoglycemia in the last 6 months and with a change in body mass index < 1 kg/m² in the last 6 months at 2, 3, 4 and 5 years
Measured: 5 years
Number of long-term micro and macro vascular complications associated with diabetes and time to occurrence of the first complication
Number of long-term micro and macro vascular complications associated with diabetes and time to occurrence of the first complication:
- Retinopathy
- Nephropathy
- Neuropathy
- Cardiovascular disease
- Liver disease
Measured: 5 years
Patient-Reported Outcomes (PROs), evaluated with SF36 questionnaire
SF36 questionnaire at baseline, every 6 months during the first 2 years, then every year until 5 years.
Measured: 5 years
Patient-Reported Outcomes (PROs), evaluated with Euroquol Dimension (EQ-5D-5L) questionnaire
EQ-5D-5L questionnaire at baseline, every 6 months during the first 2 years, then every year until 5 years.
- ADDQOL questionnaire
Measured: 5 years
Patient-Reported Outcomes (PROs), evaluated with Audit of Diabetes Dependent Quality of Life (ADDQOL) questionnaire
ADDQOL questionnaire at baseline, every 6 months during the first 2 years, then every year until 5 years.
Measured: 5 years
Number of participants agreeing to have access to secondary findings (SF)
Number of participants agreeing to have access to secondary findings (SF)
Measured: At 6 months in control group and 12 months in interventional group
Number and type of SFs (class 4 or 5 variant(s)) identified in participants that specifically consent to have access to SF
Number and type of SFs (class 4 or 5 variant(s)) identified in participants that specifically consent to have access to SF
Measured: At 6 months in control group and 12 months in interventional group
Percentage of SFs in the studied population
Percentage of SFs in the studied population
Measured: At 6 months in control group and 12 months in interventional group
Number and type of medical consequences following identification of SFs
Number and type of medical consequences following identification of SFs
Measured: 5 years
Direct costs associated with current diagnosis practices (ISApanel)
Direct costs associated with current diagnosis practices (ISApanel)
Measured: 5 years
Direct costs associated with WGS coupled with MCM
Direct costs associated with WGS coupled with MCM
Measured: 5 years
Incremental cost-effectiveness ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)
Incremental cost-effectiveness ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)
Measured: 5 years
Incremental cost-utility ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)
Incremental cost-utility ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)
Measured: 5 years
Cost-benefit of WGS coupled with MCM compared to current diagnosis practices
Cost-benefit of WGS coupled with MCM compared to current diagnosis practices (ISApanel) in terms of cost of wandering diagnosis and care procedure avoided
Measured: 5 years
Psychosocial issues related to genetic testing for atypical diabetes
Qualitative data related to patients' expectations regarding genetic testing related to atypical diabetes and needs to receive SF information.
Measured: At 6 months in control group and 12 months in interventional group
Psychosocial issues related to genetic testing for atypical diabetes
- Qualitative data (discourse - semi-structured individual interviews) related to patients experience following genetic testing results for atypical diabetes
- Qualitative data (discourse - semi-structured individual interviews) related to patients' experience of the GLUCOGEN trial
Measured: 5 years
Psychosocial issues related to patients' experience of the GLUCOGEN trial
Quantitative data (questionnaire)
Measured: 18 months
Psychosocial issues related to professional's experience of the GLUCOGEN research protocol
Qualitative data (observation), including information regarding doctor-patient relationship and decision-making processes.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Aug 2024
- Study start30 Oct 2024
- Primary completionNov 2031 (estimated)
- Study completionNov 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Diabetes MellitusStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- We plan to randomize one patient in the control group for two in the intervention group.
- Masking
- None (open label)
- Enrolment
- 1,020 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- Commissariat A L'energie Atomique, Rennes University Hospital, Central Hospital, Nancy, France, Nantes University Hospital, Imagine Institute, APHP, Hospices Civils de Lyon, Université Lumière Lyon 2, University Hospital, Toulouse
- Responsible party
- Sponsor
- Investigators
- Jean-François GAUTIER, Principal investigator, Institut National de la Santé Et de la Recherche Médicale, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06570278
- Sponsor's protocol ID
- C17-27
- Other IDs
- 2021-A02597-34
- Acronym
- GLUCOGEN
- Status last verified
- Apr 2026
- First submitted
- 2 Feb 2024
- Last updated
- 9 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes
- ClinicalTrials.gov ID
- NCT06570278
- Acronym / sponsor ID
- GLUCOGEN / C17-27
- Conditions
- Diabetes Mellitus
- Keywords
- Next generation sequencing genome, Diagnostic study, Medico-economic study
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 1,020 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Collaborators
- Commissariat A L'energie Atomique, Rennes University Hospital, Central Hospital, Nancy, France, Nantes University Hospital, Imagine Institute, APHP, Hospices Civils de Lyon, Université Lumière Lyon 2, University Hospital, Toulouse
- Study start
- 30 Oct 2024 (actual)
- Primary completion
- Nov 2031 (estimated)
- Study completion
- Nov 2034 (estimated)
- First posted
- 26 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 equivalent to that of diabetes (2012 estimate). The incidence of diabetes is exploding both for type 2 diabetes, which represents 85% of diabetes, and for type 1 diabetes, which represents 10% of cases and starts one out of two times before the age of 20. Diabetes typing is essential to guide therapeutic choices, particularly the use of insulin. This typing is based on the pathophysiology of the disease, distinguishing insulinopenia from autoimmune causes in type 1 diabetes, monogenic diabetes, secondary or atypical diabetes and type 2 diabetes, where insulinopenia and insulin resistance coexist. Thus, while a formal biological diagnosis is possible for some forms of atypical diabetes and for type 1 diabetes, no biological parameter is currently available for type 2 diabetes, which remains a diagnosis of exclusion. As a result, diabetes represents a source of diagnostic and therapeutic erraticism, amplified by the clinical heterogeneity of type 2 diabetes, which is obvious and underestimated, and by a clinical phenotyping of patients that is often defective. The economic consequences are important because the health costs are very different depending on whether or not patients are treated with insulin. Type 1 and type 2 diabetes are examples of chronic, non-transmissible, multigenic, multifactorial diseases. However, less than 10% of the heritability of type 2 diabetes is currently explained by the associated genetic variants. And although genetic tests exist to diagnose certain monogenic diabetes, this diagnosis is made in less than 20% of cases, mainly in the presence of an atypical clinical presentation of diabetes. Moreover, there is no reason to rule out the hypothesis of paucigenic forms, at the interface of monogenic diabetes and multigenic forms as usually envisaged, as has been observed in chronic pancreatitis, which is also accompanied by diabetes.
The study will be conducted according to a randomized trial design comparing two diagnostic strategies defined as follows:
- Control strategy: in silico analysis of a panel of validated genes (ISApanel - Diabetome 1). Patients recruited along the control procedure will stay in their group using current genetic diagnosis practices and standard of care that may differ from one center to another.
- Intervention strategy: whole genome sequencing coupled with multidisciplinary conciliation meeting.
We plan to randomize one patient in the control group for two in the intervention group.
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.
The target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- We plan to randomize one patient in the control group for two in the intervention group.
| Arm | Type | Receives |
|---|---|---|
| control procedure | No intervention | –In-silico analysis of a panel of validated genes (ISApanel). Patients recruited along control procedure will stay in their arm using current genetic diagnosis practices and standard of care that may differ from one center to another |
| intervention procedure | Experimental | Diagnostic Test: WGS coupled with MCMWGS coupled with MCM |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (15 listed)
- 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:
Key exclusion criteria (8 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| WGS coupled with MCMWhole 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. | Diagnostic test | intervention procedure |
Primary outcome
Number of patients with one or several genetic alterations likely causal of diabetes
Time frame: At 6 months in control group and 12 months in interventional group
Number of patients in each group with one or several genetic alterations likely causal of diabetes
28 secondary outcomes
Number of patients with an impact on treatment modification
Time frame: 5 years
Number of genetic alterations likely causal of diabetes
Time frame: At 6 months in control group and 12 months in interventional group
Feasibility of the whole genome sequencing (WGS) coupled with multidisciplinary conciliation meeting (MCM) on diagnosis of atypical forms of diabetes: time to access to the genetic data
Time frame: At 6 months in control group and 12 months in interventional group
Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and MCM
Time frame: At 6 months in control group and 12 months in interventional group
Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and access to WGS report
Time frame: At 6 months in control group and 12 months in interventional group
Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and date of the WGS result visit
Time frame: 5 years
Genotype-Insulin secretion phenotype association
Time frame: At 6 months in control group and 12 months in interventional group
Genotype-Insulin sensitivity phenotype association
Time frame: At 6 months in control group and 12 months in interventional group
Genotype-body composition phenotype association
Time frame: At 6 months in control group and 12 months in interventional group
Glycemic control without insulin treatment
Time frame: 5 years
Glycemic control without severe hypoglycemia
Time frame: 5 years
Number of long-term micro and macro vascular complications associated with diabetes and time to occurrence of the first complication
Time frame: 5 years
Patient-Reported Outcomes (PROs), evaluated with SF36 questionnaire
Time frame: 5 years
Patient-Reported Outcomes (PROs), evaluated with Euroquol Dimension (EQ-5D-5L) questionnaire
Time frame: 5 years
Patient-Reported Outcomes (PROs), evaluated with Audit of Diabetes Dependent Quality of Life (ADDQOL) questionnaire
Time frame: 5 years
Number of participants agreeing to have access to secondary findings (SF)
Time frame: At 6 months in control group and 12 months in interventional group
Number and type of SFs (class 4 or 5 variant(s)) identified in participants that specifically consent to have access to SF
Time frame: At 6 months in control group and 12 months in interventional group
Percentage of SFs in the studied population
Time frame: At 6 months in control group and 12 months in interventional group
Number and type of medical consequences following identification of SFs
Time frame: 5 years
Direct costs associated with current diagnosis practices (ISApanel)
Time frame: 5 years
Direct costs associated with WGS coupled with MCM
Time frame: 5 years
Incremental cost-effectiveness ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)
Time frame: 5 years
Incremental cost-utility ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)
Time frame: 5 years
Cost-benefit of WGS coupled with MCM compared to current diagnosis practices
Time frame: 5 years
Psychosocial issues related to genetic testing for atypical diabetes
Time frame: At 6 months in control group and 12 months in interventional group
Psychosocial issues related to genetic testing for atypical diabetes
Time frame: 5 years
Psychosocial issues related to patients' experience of the GLUCOGEN trial
Time frame: 18 months
Psychosocial issues related to professional's experience of the GLUCOGEN research protocol
Time frame: 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Apr 2026.
Related trials for Diabetes Mellitus
Not yet recruitingPhase 3
Efficacy and Safety of Once-Weekly SHR-3167 Compared With Once-Daily Insulin Glargine in Adults With Insulin-Naive Type 2 Diabetes
Type 2 Diabetes
Active, not recruiting
Digital Reinforcement of Motivational Interviewing Micro-Skills Among Primary Care Healthcare Professionals
Hypertension (Without Type 2 Diabetes Mellitus)
Recruiting
Effects of Lean Pork Loin Intake on Protein Homeostasis and Glucose Regulation in Prediabetic Adults
Hyperglycaemia (Non Diabetic), Prediabetes
Recruiting
PAW-Hydrogel for Chronic Wound Healing
Diabetic Foot Ulcer (DFU), Pressure Ulcer (PU)
Recruiting
Investigating Vascular Properties of HEMI and SPG Signals in Individuals With or at Risk for Chronic Kidney Disease
Chronic Kidney Disease, Hypertension (HTN)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jean-François GAUTIER principal investigator
Institut National de la Santé Et de la Recherche Médicale, France
26 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing WGS coupled with MCM in people with Diabetes Mellitus, run by Institut National de la Santé Et de la Recherche Médicale, France at 26 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 15 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 26 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jean-François Gautier (+33 01 49 95 90 20, jean-francois.gautier@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients with one or several genetic alterations likely causal of diabetes (time frame: At 6 months in control group and 12 months in interventional group). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Apr 2026.