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

Study Overview
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Brief Summary
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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
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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).

Official Title
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Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells

Conditions
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Cardiomyopathy, Familial

Intervention / Treatment
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* Other: Electrocardiogram
* Other: physical examination
* Other: echocardiography
* Biological: blood test


Participation Criteria
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Eligibility Criteria
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Group 1 : Child with genetic cardiomyopathy Inclusion criteria Child from 0 to 17 years old included Bearer or at risk of cardiomyopathy of genetic origin. Written and informed consent of parents or guardians of legal guardians Affiliation or beneficiary of a social security scheme Criterion of non-inclusion . Cardiomyopathy of non-genetic origin (metabolic, toxic, malformative, etc.) Group 2 : Healthy child Inclusion criteria Children aged 0 to 17 years old Normal assessment: clinical examination, ECG, echocardiography Written and informed consent Affiliation or beneficiary of a social security scheme Criterion of non-inclusion Heart, muscle or respiratory disease Treatment with cardiac resonance Other chronic diseases (diabetes, neuropathy, kidney failure, tumor)

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 17 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Interventional Model Description: All participants receive the same intervention throughout the protocol, no matter if they are healthy children or cardiomyopathic children.
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Healthy children<br>Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography. | Other: Electrocardiogram<br>* heart testing<br>Other: physical examination<br>* done by the investigator<br>Other: echocardiography<br>* heart testing<br>Biological: blood test<br>* A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes<br>|
| Other: Cardiomyopathic children<br>Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography. | Other: Electrocardiogram<br>* heart testing<br>Other: physical examination<br>* done by the investigator<br>Other: echocardiography<br>* heart testing<br>Biological: blood test<br>* A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| hiPSC-cardiomyocytes culture | Blood test with generated hiPSC-cardiomyocytes | Inclusion visit | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cardiomyocytes, Induced pluripotent stem cells, Genetic cardiomyopathy