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

University Hospital Center (CHU)

Status: Completed

Conditions: Cardiomyopathy, Familial

Treatments: Biological: blood test; Other: echocardiography; Other: physical examination; Other: Electrocardiogram

Study type: Interventional

Funder types: Other

Identifiers

NCT03696628

9806

2017-A01589-44 (Registry Identifier)

Details and patient eligibility

About

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.

Full 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).

Enrollment: 24 patients

Sex: All

Ages: Under 17 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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)

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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24 participants in 2 patient groups

Healthy children

Other group

Description:

Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.

Treatment:

Other: echocardiography

Other: Electrocardiogram

Other: physical examination

Biological: blood test

Cardiomyopathic children

Other group

Description:

Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.

Treatment:

Other: echocardiography

Other: Electrocardiogram

Other: physical examination

Biological: blood test