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Identification and Characterization of Monogenic Diabetes

NCT01481623 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 127

Last updated 2026-04-06

No results posted yet for this study

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

Interventions

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)

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Pierre-Jean Guillausseau, MD · CHU Lariboisière, AP-HP

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2012-09-05
Primary Completion
2018-07-21
Completion
2018-07-21

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01481623 on ClinicalTrials.gov