DiabetesDIAGENENCT01481623
Identification and Characterization of Monogenic Diabetes
A study testing Constitution of a biological bank and Metabolic studies in people with Diabetes, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Type 1 Diabetes is a multifactorial disease, with a strong genetic contribution of HLA genes, and minor contributions of many additional genes. The investigators hypothesis is that in addition to multifactorial inheritance, there are subtypes of diabetes that are caused by defects in single genes (monogenic diabetes). Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Diabetes
- What is being tested?
- Constitution of a biological bank and Metabolic studies
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 127 participants
- Where
- 1 siteFrance
- Study dates
- 5 Sep 2012to 21 Jul 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- First phase: to have an "extreme" form of diabetes, based on clinical, phenotypic and familial criteria. Parents and siblings of the proband will be sampled.
- Second phase: (after gene identification): to be a relative of the proband, potential carrier of the mutation
Who cannot join
- Non consent to participate to the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Identification and Genetic, Clinical and Metabolic Characterization of Monogenic Forms of Insulin-dependent Diabetes
Type 1 Diabetes is a multifactorial disease, with a strong genetic contribution of HLA genes, and minor contributions of many additional genes. The investigators hypothesis is that in addition to multifactorial inheritance, there are subtypes of diabetes that are caused by defects in single genes (monogenic diabetes). The aim of this project is to identify these genes, based on detailed clinical and characterization of patients, and to describe the corresponding genetic diabetes entities with respect to the genetic and molecular defect, clinical features and biochemistry. Based on the investigators study design, most of these diabetes entities will be caused by mutations affecting the two copies of the corresponding gene. In addition, the investigators will study the relatives of the patients, and explore if carriers of these genetic defects (i.e. only one copy of the gene being defective) may have a predisposition to common forms of diabetes, mainly type 2 diabetes.
Read the detailed description
In the first phase of the study the investigators will recruit patients and families, with a strong bias for "extreme" forms of diabetes (very early onset and/or syndromic diabetes) and familial context suggestive of monogenic inheritance (e.g. consanguinity, multiplicity of diabetic siblings) and perform genetic studies on these to identify the genes. After obtaining informed consent, the investigators will collect clinical information on diabetes and other associated diseases and features, family information on diabetes, and collect blood samples for DNA, RNA, serum and cell lines. The investigators will then perform genetic studies to identify the genes responsible for these monogenic forms of diabetes.
After identification of genes, the second phase of the study will be to test the consequence of carrier status for the identified mutations on metabolic traits related to glucose metabolism. For this, after obtaining informed consent, the investigators will extend the recruitment of the initial families (after gene identification) to recruit relatives who may be carriers of these mutations. The investigators will determine the carrier status of these subjects and perform a detailed clinical description as well as metabolic studies to evaluate their glucose metabolism.
This study will lead to the identification of new monogenic diabetes entities, and their corresponding genes, and may also result in the identification of new genes predisposing to common forms of diabetes. This project has implication for diagnosis of these monogenic forms of diabetes, and may result in some cases in improved care for the patients, including prevention and treatment.
- Conditions
- Diabetes
- Being tested
- Constitution of a biological bank, Metabolic studies
- Keywords
- Diabetes, neonatal, consanguinity, monogenic, metabolism
- Medical subject headings
- Diabetes Mellitus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Constitution of a biological bankOther
Blood samples for the constitution of a biobank (DNA, RNA, serum)
Metabolic studiesOther
oral glucose tolerance test (OGTT) intravenous glucose tolerance test (IVGTT) hyperglycemic clamp staged glucose perfusion arginine test measure of body composition (BIPHOTONIC absorptiometry, DEXA)
| Study group | Role | What they receive |
|---|---|---|
| Gene identification and phenotyping | Other | Identification of patients (probands), questionnaire and informed consent of patients and their families, biological sampling, DNA and RNA extraction, genetic study for gene identification, re-contact of family members and relatives (with consent) for metabolic study of mutation carriers, and complementary studies of homozygous patients in some cases Receives: Other: Constitution of a biological bank; Other: Metabolic studies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification and genetic, clinical and metabolic characterization of monogenic diabetes forms
to identify genes responsible for monogenic insulin-dependant diabetes, and to define and characterize the corresponding genetic diabetes entities with respect to the genetic and molecular defect, clinical and phenotypic features and biochemistry
Measured: 36 months
Secondary outcomes (2)
Diagnosis of monogenic diabetes
to diagnose these monogenic diabetes entities and to evaluate the proportion of insulin-dependant diabetes which are explained by monogenic determinism, depending on several parameters, such as familial structure and clinical characteristics.
Measured: 36 months
Clinical and biological characterization of total or partial deficiency of the genes responsible for monogenic diabetes
To characterize precisely the clinical and biological consequences of total or partial deficiency of the genes responsible for monogenic diabetes, and explore their possible role in glucidic metabolism. This way suggest them as candidate genes for common forms of diabetes.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2011 (estimated)
- Study start5 Sep 2012
- Primary completion21 Jul 2018
- Study completion21 Jul 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DiabetesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Not applicable
- Intervention model
- Single group
- Enrolment
- 127 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Pierre-Jean Guillausseau, MD, Study director, CHU Lariboisière, AP-HP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01481623
- Sponsor's protocol ID
- P081230
- Acronym
- DIAGENE
- Status last verified
- Mar 2026
- First submitted
- 27 Oct 2011
- Last updated
- 6 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification and Genetic, Clinical and Metabolic Characterization of Monogenic Forms of Insulin-dependent Diabetes
- ClinicalTrials.gov ID
- NCT01481623
- Acronym / sponsor ID
- DIAGENE / P081230
- Conditions
- Diabetes
- Keywords
- Diabetes, neonatal, consanguinity, monogenic, metabolism
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 127 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 5 Sep 2012 (actual)
- Primary completion
- 21 Jul 2018 (actual)
- Study completion
- 21 Jul 2018 (actual)
- First posted
- 29 Nov 2011 (estimated)
- 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.
Type 1 Diabetes is a multifactorial disease, with a strong genetic contribution of HLA genes, and minor contributions of many additional genes. The investigators hypothesis is that in addition to multifactorial inheritance, there are subtypes of diabetes that are caused by defects in single genes (monogenic diabetes). The aim of this project is to identify these genes, based on detailed clinical and characterization of patients, and to describe the corresponding genetic diabetes entities with respect to the genetic and molecular defect, clinical features and biochemistry. Based on the investigators study design, most of these diabetes entities will be caused by mutations affecting the two copies of the corresponding gene. In addition, the investigators will study the relatives of the patients, and explore if carriers of these genetic defects (i.e. only one copy of the gene being defective) may have a predisposition to common forms of diabetes, mainly type 2 diabetes.
Detailed description
In the first phase of the study the investigators will recruit patients and families, with a strong bias for "extreme" forms of diabetes (very early onset and/or syndromic diabetes) and familial context suggestive of monogenic inheritance (e.g. consanguinity, multiplicity of diabetic siblings) and perform genetic studies on these to identify the genes. After obtaining informed consent, the investigators will collect clinical information on diabetes and other associated diseases and features, family information on diabetes, and collect blood samples for DNA, RNA, serum and cell lines. The investigators will then perform genetic studies to identify the genes responsible for these monogenic forms of diabetes.
After identification of genes, the second phase of the study will be to test the consequence of carrier status for the identified mutations on metabolic traits related to glucose metabolism. For this, after obtaining informed consent, the investigators will extend the recruitment of the initial families (after gene identification) to recruit relatives who may be carriers of these mutations. The investigators will determine the carrier status of these subjects and perform a detailed clinical description as well as metabolic studies to evaluate their glucose metabolism.
This study will lead to the identification of new monogenic diabetes entities, and their corresponding genes, and may also result in the identification of new genes predisposing to common forms of diabetes. This project has implication for diagnosis of these monogenic forms of diabetes, and may result in some cases in improved care for the patients, including prevention and treatment.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Gene identification and phenotyping | Other | Other: Constitution of a biological bank, Other: Metabolic studiesIdentification of patients (probands), questionnaire and informed consent of patients and their families, biological sampling, DNA and RNA extraction, genetic study for gene identification, re-contact of family members and relatives (with consent) for metabolic study of mutation carriers, and complementary studies of homozygous patients in some cases |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- First phase: to have an "extreme" form of diabetes, based on clinical, phenotypic and familial criteria. Parents and siblings of the proband will be sampled.
- Second phase: (after gene identification): to be a relative of the proband, potential carrier of the mutation
Key exclusion criteria (1 listed)
- Non consent to participate to the study
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 |
|---|---|---|
| Constitution of a biological bankBlood samples for the constitution of a biobank (DNA, RNA, serum) | Other | Gene identification and phenotyping |
| Metabolic studiesoral glucose tolerance test (OGTT) intravenous glucose tolerance test (IVGTT) hyperglycemic clamp staged glucose perfusion arginine test measure of body composition (BIPHOTONIC absorptiometry, DEXA) | Other | Gene identification and phenotyping |
Primary outcome
Identification and genetic, clinical and metabolic characterization of monogenic diabetes forms
Time frame: 36 months
to identify genes responsible for monogenic insulin-dependant diabetes, and to define and characterize the corresponding genetic diabetes entities with respect to the genetic and molecular defect, clinical and phenotypic features and biochemistry
2 secondary outcomes
Diagnosis of monogenic diabetes
Time frame: 36 months
Clinical and biological characterization of total or partial deficiency of the genes responsible for monogenic diabetes
Time frame: 36 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2026.
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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. This study is not recruiting at the moment.
Pierre-Jean Guillausseau, MD study director
CHU Lariboisière, AP-HP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Constitution of a biological bank and Metabolic studies in people with Diabetes, run by Assistance Publique - Hôpitaux de Paris at 1 site 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 2 inclusion and 1 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: finished, as of the sponsor's last update on 6 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 1 site 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification and genetic, clinical and metabolic characterization of monogenic diabetes forms (time frame: 36 months). 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 6 Apr 2026.