Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells (DMDstem)

Not Applicable

Completed

• Conditions: Cardiomyopathy, Familial
• Interventions: Other: Electrocardiogram; Other: physical examination; Other: echocardiography; Biological: blood test

• Registration Number: NCT03696628
• Lead Sponsor: University Hospital, Montpellier

Brief Summary

Interventional, cross-sectional biomedical study of children with genetic cardiomyopathy and healthy children. The aim is to generate, via induced human pluripotent stem cells (hiPSC), "patient-specific" cardiomyocytes (CMs) (hiPSC-CMs) to study the molecular mechanisms of cardiomyopathies of genetic origin.

Detailed Description

Interventional, cross-sectional biomedical study of children with genetic cardiomyopathy and healthy children. The aim is to generate, via induced human pluripotent stem cells (hiPSC), "patient-specific" cardiomyocytes (CMs) (hiPSC-CMs) to study the molecular mechanisms of cardiomyopathies of genetic origin.

The study will be proposed to the parents or legal guardians of the children from 0 to 17 included sent in pediatric cardiology consultation to the University Hospital of Montpellier as part of their usual follow-up or a health check (control) .

The only direct intervention performed on the patient is a venous blood sample. The volume of blood collected will be lower than the thresholds defined in the Decree of December 2nd, 2016 on minimal risks in biomedical research (3 ml).

Study Timeline

• Study Start: 2017-09-25
• Study First Submitted: 2018-08-07
• Study First Submitted QC: 2018-10-03
• Study First Posted: 2018-10-04
• Primary Completion: 2021-01-20
• Study Completion: 2021-01-20
• Status Verified: 2022-07
• Last Update Submitted: 2022-12-13
• Last Update Posted: 2022-12-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 24

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Healthy children	blood test	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Cardiomyopathic children	physical examination	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Cardiomyopathic children	echocardiography	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Healthy children	echocardiography	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Cardiomyopathic children	Electrocardiogram	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Healthy children	Electrocardiogram	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Healthy children	physical examination	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Cardiomyopathic children	blood test	Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.

Primary Outcome Measures

Name	Time	Method
hiPSC-cardiomyocytes culture	Inclusion visit	Blood test with generated hiPSC-cardiomyocytes

Trial Locations

Locations (1)

CHU Arnaud de Villeneuve; 🇫🇷 Montpellier, Occitanie, France