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Trial record 6 of 8 for:    KCNJ11

Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) (GENEPEDIAB)

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ClinicalTrials.gov Identifier: NCT04021199
Recruitment Status : Recruiting
First Posted : July 16, 2019
Last Update Posted : July 16, 2019
Sponsor:
Information provided by (Responsible Party):
Université Catholique de Louvain

Brief Summary:

Background/Aims: Diabetes, which affects 420 million people worldwide with a continuously rising incidence, is defined by a state of chronic hyperglycemia; a criterion referring to a heterogeneous group of diseases with various etiologies and distinct therapeutic options. Besides the two main forms of diabetes (i.e., type 1 (T1D) and type 2 (T2D)), there are rare subtypes of the disease called monogenic diabetes (or formerly MODY) that are hardly diagnosed because of their resemblance to T1D or T2D. Since these monogenic diabetes may appear early in life, a consortium of expert pediatric clinical centers was created under a clinical research initiative (the GENEPEDIAB study) to develop tools for accurate diagnosis of rare diabetes and to propose appropriate care to these children and adolescents wrongly assigned to T1D or T2D cohorts. The GENEPEDIAB study was initiated in the context of a broader collaborative project (DiaType) with the objective to develop personalized diabetes medicine and better patient care.

Methods: For discrimination of patients with monogenic diabetes from those with classical forms of diabetes using the MODY probability calculator, patients enrolled in the GENEPEDIAB study are phenotyped and genotyped for T1D risk (anti-islet antibodies and HLA). Patients fulfilling sufficient criteria are then genotyped using the routine MODY panel, before being proposed a thorough gene analysis. More comprehensive genetic tests will be conducted in patients without anomalies found after the MODY gene-sequencing test.

Perspective: the GENEPEDIAB study will enable the investigators to adapt treatment to diabetes etiology and help to provide genetic counseling to patients and their family members. The investigators anticipate that its broad genetic analyses will provide them with important information about the genetic susceptibility of these subgroups of patients with atypical diabetes.


Condition or disease Intervention/treatment Phase
Diabetes Mellitus MODY Genetic: Mody test Not Applicable

  Show Detailed Description

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 600 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB)
Actual Study Start Date : October 22, 2018
Estimated Primary Completion Date : October 22, 2021
Estimated Study Completion Date : October 22, 2021

Arm Intervention/treatment
Active Comparator: T1D Group
  • Retrospective analysis of data from active and historical diabetic patients within diabetes care conventions of pediatric endocrinology services; screening of patients with atypical diabetes; use of tests used in clinical routine to allow referral to the genetic diagnosis of the condition.
  • Prospective analysis of the evolution of new diabetic patients followed in pediatric endocrinology services of diabetes care conventions; screening of patients with atypical diabetes; use of tests used in clinical routine to allow the genetic diagnosis of the condition.
  • Screening of patients with atypical diabetes: first evaluated according to the "MODY" probability calculator. In addition, other clinical criteria will be used to improve the sensitivity and specificity of pediatric monogenic diabetes screening.
Genetic: Mody test

Subjects will be screened using a MODY gene-sequencing test, which includes GCK, HNF1A, HNF4A, HNF1B, KCNJ11, ABCC8, and INS gene sequencing.

More comprehensive genetic tests will be conducted in patients without anomalies found after the MODY gene-sequencing test.


Experimental: MODY Group
  • Retrospective analysis of data from active and historical diabetic patients within diabetes care conventions of pediatric endocrinology services; screening of patients with atypical diabetes; use of tests used in clinical routine to allow referral to the genetic diagnosis of the condition.
  • Prospective analysis of the evolution of new diabetic patients followed in pediatric endocrinology services of diabetes care conventions; screening of patients with atypical diabetes; use of tests used in clinical routine to allow the genetic diagnosis of the condition.
  • Screening of patients with atypical diabetes: first evaluated according to the "MODY" probability calculator. In addition, other clinical criteria will be used to improve the sensitivity and specificity of pediatric monogenic diabetes screening.
Genetic: Mody test

Subjects will be screened using a MODY gene-sequencing test, which includes GCK, HNF1A, HNF4A, HNF1B, KCNJ11, ABCC8, and INS gene sequencing.

More comprehensive genetic tests will be conducted in patients without anomalies found after the MODY gene-sequencing test.





Primary Outcome Measures :
  1. Diagnostic of atypical diabetes using follow-up of clinical parameters: Weight [ Time Frame: At diabetes diagnosis ]
    Weight in kilograms (Kg)

  2. Diagnostic of atypical diabetes using follow-up of clinical parameters: Height [ Time Frame: At diabetes diagnosis ]
    Height in meters (m)

  3. Diagnostic of atypical diabetes using follow-up of clinical parameters: BMI [ Time Frame: At diabetes diagnosis ]
    Body Mass Index (Kg/m²)

  4. Diagnostic of atypical diabetes using follow-up of laboratory results: HbA1c (%) [ Time Frame: from diabetes diagnosis to study inclusion. (The study inclusion will be from 18 months after diagnosis to several years) ]
    Glicated hemoglobin (%)

  5. Diagnostic of atypical diabetes using follow-up of laboratory results: HbA1c (mmol/mol) [ Time Frame: from diabetes diagnosis to study inclusion. (The study inclusion will be from 18 months after diagnosis to several years) ]
    Glicated hemoglobin (mmol/mol)

  6. Diagnostic of atypical diabetes using follow-up of laboratory results: Glycaemia [ Time Frame: from diabetes diagnosis to study inclusion ]
    Glycaemia (mg/dL)

  7. Diagnostic of atypical diabetes using follow-up of laboratory results: C-peptide [ Time Frame: from diabetes diagnosis to study inclusion. (The study inclusion will be from 18 months after diagnosis to several years) ]
    C-peptide (pmol/mL)

  8. Genetic diagnosis of diabetes: Anti-islets antibodies [ Time Frame: from diabetes diagnosis to study inclusion. (The study inclusion will be from 18 months after diagnosis to several years) ]
    Presence of measurable Anti-islets antibodies

  9. Genetic diagnosis of diabetes: HLA genotype [ Time Frame: from diabetes diagnosis to study inclusion. (The study inclusion will be from 18 months after diagnosis to several years) ]
    Presence of at risk HLA genotype

  10. Genetic diagnosis of atypical diabetes: MODY gene-sequencing test [ Time Frame: at inclusion in the study ]
    MODY gene-sequencing test (GCK, HNF1A, HNF4A, HNF1B, KCNJ11, ABCC8, and INS gene sequencing)

  11. Genetic diagnosis of atypical diabetes: More comprehensive genetic tests [ Time Frame: After MODY gene-sequencing test, from 3 months to 1.5 year after study inclusion ]
    More comprehensive genetic tests will be conducted in patients without anomalies found after the MODY gene-sequencing test.



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Ages Eligible for Study:   up to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Age between 0 and 18 years at the age of diabetes diagnosis.
  • Patients followed and/or diagnosed within diabetes care agreements of the pediatric endocrinology departments participating in the study.

Exclusion Criteria:

  • none

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): NCT04021199


Contacts
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Contact: Philippe Lysy, MD, PhD 00 32 2 764 13 88 philippe.lysy@uclouvain.be
Contact: Paola Gallo 00 32 2 764 52 76 paola.gallo@uclouvain.be

Locations
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Belgium
Cliniques universitaires Saint-Luc - UCLouvain Recruiting
Brussel, Belgium, 1200
Contact: Philippe Lysy, MD, Phd    00 32 2 764 13 88    philippe.lysy@uclouvain.be   
Contact: Paola Gallo    00 32 2 764 52 76    paola.gallo@uclouvain.be   
Principal Investigator: Philippe Lysy, Md, Phd         
Sub-Investigator: Sophie Welsch, Phd student         
Sub-Investigator: Caroline Daems, Phd         
Sub-Investigator: Paola Gallo, CRC         
Sponsors and Collaborators
Université Catholique de Louvain
Investigators
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Principal Investigator: Philippe Lysy Cliniques universitaires Saint-Luc - UCLouvain

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Responsible Party: Université Catholique de Louvain
ClinicalTrials.gov Identifier: NCT04021199     History of Changes
Other Study ID Numbers: GENEPEDIAB
First Posted: July 16, 2019    Key Record Dates
Last Update Posted: July 16, 2019
Last Verified: June 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases