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

  • End date
    Sep 30, 2021
  • participants needed
  • sponsor
    University of Liege
Updated on 27 January 2021


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.


Procedure and methodology: during a follow-up visit to their usual diabetist (at CHU de Lige), 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 Lige 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.

Condition NIDDM, Diabetes Mellitus, Type 2, Diabetes Mellitus Type 2, type 2 diabetes mellitus, type 2 diabetes, type ii diabetes, noninsulin-dependent diabetes mellitus, diabetes type 2
Treatment search for rare pathogenic mutations
Clinical Study IdentifierNCT04700813
SponsorUniversity of Liege
Last Modified on27 January 2021


Yes No Not Sure

Inclusion Criteria

Is your age greater than or equal to 18 yrs?
Gender: Male or Female
Do you have any of these conditions: diabetes type 2 or Diabetes Mellitus, Type 2 or NIDDM or Diabetes Mellitus Type 2 or type ii diabetes or noninsulin-dependent diabetes mellitus or typ...?
Do you have any of these conditions: type ii diabetes or type 2 diabetes or NIDDM or diabetes type 2 or Diabetes Mellitus, Type 2 or Diabetes Mellitus Type 2 or noninsulin-dependent diabe...?
Do you have any of these conditions: type ii diabetes or diabetes type 2 or NIDDM or noninsulin-dependent diabetes mellitus or Diabetes Mellitus Type 2 or Diabetes Mellitus, Type 2 or typ...?
diabetes type 2

Exclusion Criteria

Refusal of participation
Type 1 diabetic
Presence of auto-antibodies directed against the cells of the pancreas (insulin-secreting)
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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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