Identification and Characterization of Monogenic Diabetes

NCT01481623 | Unknown

• 1 other identifier: P081230
• Study Type: interventional
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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). 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.

Conditions

Diabetes

Keywords

Diabetes; neonatal; consanguinity; monogenic; metabolism

Outcome Measures

Primary Outcomes (1)

• 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

  36 months

Secondary Outcomes (2)

• Diagnosis of monogenic diabetes

  36 months

• Clinical and biological characterization of total or partial deficiency of the genes responsible for monogenic diabetes

  36 months

Study Arms (1)

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

Other: Constitution of a biological bank; Other: Metabolic studies

Interventions

Constitution of a biological bank OTHER

Blood samples for the constitution of a biobank (DNA, RNA, serum)

Gene identification and phenotyping

Metabolic studies OTHER

oral glucose tolerance test (OGTT) intravenous glucose tolerance test (IVGTT) hyperglycemic clamp staged glucose perfusion arginine test measure of body composition (BIPHOTONIC absorptiometry, DEXA)

Gene identification and phenotyping

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Non consent to participate to the study

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Lariboisiere hospital

Paris, 75010, France

RECRUITING

MeSH Terms

Conditions

Diabetes Mellitus

Condition Hierarchy (Ancestors)

Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases

Study Officials

• Pierre-Jean Guillausseau, MD

  CHU Lariboisière, AP-HP

  STUDY DIRECTOR

Central Study Contacts

Pierre-Jean Guillausseau, MD

CONTACT

+33 (0)1 49 95 63 80; pierre-jean.guillausseau@lrb.aphp.fr

Cécile Julier, PhD

CONTACT

+33 (0)1 57 27 85 43; cecile.julier@inserm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 27, 2011
• First Posted: November 29, 2011
• Study Start: September 1, 2012
• Primary Completion: September 1, 2015
• Study Completion: September 1, 2015
• Last Updated: June 3, 2015

Record last verified: 2015-05

Locations

FR (1)