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Research Study for Rare Pathogenic Mutations Causing Type 2 Diabetes and Complications (PreciDiag)

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ClinicalTrials.gov Identifier: NCT04700813
Recruitment Status : Recruiting
First Posted : January 8, 2021
Last Update Posted : January 8, 2021
Sponsor:
Collaborator:
EGID, Lille
Information provided by (Responsible Party):
Nicolas PAQUOT, University of Liege

Brief Summary:

Single-center trial The goal is to better understand the various genetic mutations encountered in cases of type 2 diabetes as well as their frequency of occurrence in the population.

Such analyzes also make it possible to develop personalized medicine and to be able to prevent the associated risks.

The aim of this work is also to demonstrate the value of a systematic genetic diagnosis of patients with DMT2 in order to improve their clinical management.

Taking a blood sample, which will consist of the single sample from the entire study (1 single visit, combined with a follow-up visit to the patient's usual diabetist).

Participation in this study would make it possible to diagnose rare pathogenic mutations in type 2 diabetes and therefore to be able to adapt the treatment in a specific and personal way depending on the presence or not of the mutations and also to prevent the appearance of other pathologies.


Condition or disease Intervention/treatment
Diabete Type 2 Diagnostic Test: search for rare pathogenic mutations

Detailed Description:

Procedure and methodology: during a follow-up visit to their usual diabetist (at CHU de Liège), we will send each potential volunteer, fulfilling the conditions for inclusion, an information and consent form relating to genetic analyzes. Participation in the protocol is voluntary, after detailed information and discussion with the patient. Once the participation agreement has been obtained, we will take a blood sample, which will be the only sample from the entire study.

All the tubes will be centrifuged, decanted, separated and frozen at -80 °C at the CHU de Liège for constitution of a serum bank on site, and of a DNA library at UMR8199.

For DNA extraction, samples will be sent at -80 ° C. DNA extraction will be automated (Autopure, Qiagen).

After DNA extraction, the genes involved in monogenic diabetes (Table 1) will be sequenced via Twist or NimbleGen capture in combination with Illumina sequencing (NovaSeq 6000), as recommended by Twist, NimbleGen and Illumina. The target will also include genes involved in the rare forms of metabolic diseases associated with diabetes: obesity, metabolic syndrome, familial hypercholesterolemia, kidney disease, cardiovascular disease and non-alcoholic fatty liver disease. This will help refine the patient's phenotypic understanding and improve their care.

Table 1. List of genes involved in monogenic diabetes

Gene ID NM ID ABCC8 NM_000352.4 APPL1 NM_012096.2 BLK NM_001715.2 CEL NM_001807.4 DNAJC3 NM_006260.4 DYRK1B NM_004714.2 EIF2AK3 NM_004836.5 FOXP3 NM_014009.3 GATA4 NM_002052.3 GATA6 NM_005257.5 GCK NM_000162.3 GLIS3 NM_152629.3 HNF1A NM_000545.5 HNF1B NM_000458.3 HNF4A NM_175914.4 IER3IP1 NM_016097.4 INS NM_000207.2 KCNJ11 NM_000525.3 KLF11 NM_003597.4 LRBA NM_6726.4 MAFA NM_201589.3 MNX1 NM_005515.3 MRAP2 NM_138409.3 NEUROD1 NM_002500.4 NEUROG3 NM_020999.3 NKX2-2 NM_002509.3 PAX4 NM_006193.2 PAX6 NM_000280.4 PCBD1 NM_000281.3 PDX1 NM_000209.3 PPP1R15B NM_032833.4 PTF1A NM_178161.2 RFX6 NM_173560.3 SLC19A2 NM_006996.2 SLC2A2 NM_000340.1 STAT3 NM_139276.2 TRMT10A NM_152292.4 WFS1 NM_006005.3 ZFP57 NM_001109809.2

Following sequencing, mutations will be detected and annotated according to the bioinformatics protocol implemented and optimized in UMR8199 since 2009.

Clinical and medical data will also be collected: weight, height, blood pressure, drug treatment, medical and surgical history as well as any other important medical information concerning the subject of the project. Data concerning the patient's ethnic origin will also be collected.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 4000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 1 Day
Official Title: Research Study for Rare Pathogenic Mutations Causing Type 2 Diabetes and Complications
Actual Study Start Date : September 13, 2019
Estimated Primary Completion Date : September 30, 2021
Estimated Study Completion Date : September 30, 2021

Resource links provided by the National Library of Medicine



Intervention Details:
  • Diagnostic Test: search for rare pathogenic mutations
    search for rare pathogenic mutations causing diabetes type 2


Primary Outcome Measures :
  1. pathogenic mutations causing type 2 diabetes [ Time Frame: 24 months ]

Biospecimen Retention:   Samples With DNA
  • 1 × 5mL of blood on EDTA for DNA extraction,
  • 4 × 5 mL of blood in a dry tube for the constitution of a serum bank,
  • 2 × 5 mL of blood on EDTA for the preservation of the plasma for the subsequent performance of additional analyzes as part of a positive genetic diagnosis.

Au total : 35 mL de sang seront prélevés.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
type 2 diabetic patients monitored for this pathology at the study site academic hospital of Liège
Criteria

Inclusion Criteria:

  • diabetes type 2

Criteria exclusion:

  • Refusal of participation
  • Type 1 diabetic
  • Presence of auto-antibodies directed against the β cells of the pancreas (insulin-secreting)

Information from the National Library of Medicine

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): NCT04700813


Contacts
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Contact: Nicolas Paquot +323662942 nicolas.paquot@chuliege.be

Locations
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Belgium
Marjorie Fadeur Recruiting
Liège, Belgium, 4000
Contact: Marjorie Fadeur    +3243662942    marjorie.fadeur@chuliege.be   
Sponsors and Collaborators
University of Liege
EGID, Lille
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Responsible Party: Nicolas PAQUOT, Professor, University of Liege
ClinicalTrials.gov Identifier: NCT04700813    
Other Study ID Numbers: 2019-166
B707201940651 ( Other Identifier: numéro belge )
First Posted: January 8, 2021    Key Record Dates
Last Update Posted: January 8, 2021
Last Verified: January 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Diabetes Mellitus, Type 2
Diabetes Mellitus
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases