Identification and Characterization of Monogenic Diabetes (DIAGENE)
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|ClinicalTrials.gov Identifier: NCT01481623|
Recruitment Status : Unknown
Verified May 2015 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was: Recruiting
First Posted : November 29, 2011
Last Update Posted : June 3, 2015
|Condition or disease||Intervention/treatment||Phase|
|Diabetes||Other: Constitution of a biological bank Other: Metabolic studies||Not Applicable|
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 Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||1000 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Identification and Genetic, Clinical and Metabolic Characterization of Monogenic Forms of Insulin-dependent Diabetes|
|Study Start Date :||September 2012|
|Estimated Primary Completion Date :||September 2015|
|Estimated Study Completion Date :||September 2015|
Gene identification and phenotyping
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
Other: Constitution of a biological bank
Blood samples for the constitution of a biobank (DNA, RNA, serum)
Other: Metabolic studies
oral glucose tolerance test (OGTT) intravenous glucose tolerance test (IVGTT) hyperglycemic clamp staged glucose perfusion arginine test measure of body composition (BIPHOTONIC absorptiometry, DEXA)
- 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
- Diagnosis of monogenic diabetes [ Time Frame: 36 months ]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.
- Clinical and biological characterization of total or partial deficiency of the genes responsible for monogenic diabetes [ Time Frame: 36 months ]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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01481623
|Contact: Pierre-Jean Guillausseau, MD||+33 (0)1 49 95 63 email@example.com|
|Contact: Cécile Julier, PhD||+33 (0)1 57 27 85 firstname.lastname@example.org|
|Paris, France, 75010|
|Principal Investigator: Pierre-Jean Guillausseau|
|Study Director:||Pierre-Jean Guillausseau, MD||CHU Lariboisière, AP-HP|