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

January 7, 2021 updated by: Nicolas PAQUOT, University of Liege

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Unknown

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
4000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • Belgium
      • Liège, Belgium, 4000
        • Recruiting
        • Marjorie Fadeur

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

type 2 diabetic patients monitored for this pathology at the study site academic hospital of Liège

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
pathogenic mutations causing type 2 diabetes
Time Frame: 24 months
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University of Liege

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
EGID, Lille

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 13, 2019

Primary Completion (Anticipated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
September 30, 2021

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 30, 2021

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 24, 2020

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 7, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 8, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
January 8, 2021

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 7, 2021

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 2019-166
  • B707201940651 (Other Identifier: numéro belge)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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