Cardiomyopathy, Familial
Conditions
Keywords
Cardiomyocytes, Induced pluripotent stem cells, Genetic cardiomyopathy
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).
Interventions
OTHERechocardiography
heart testing
BIOLOGICALblood test
A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes
OTHERElectrocardiogram
heart testing
OTHERphysical examination
done by the investigator
Sponsors
University Hospital, Montpellier
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Masking description
Open : no masking us used. All involved know the identity of the intervention assignment.
Intervention model description
All participants receive the same intervention throughout the protocol, no matter if they are healthy children or cardiomyopathic children.
Eligibility
Sex/Gender
ALL
Age
0 Years to 17 Years
Healthy volunteers
Yes
Inclusion 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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| hiPSC-cardiomyocytes culture | Inclusion visit | Blood test with generated hiPSC-cardiomyocytes |
Countries
France
Outcome results
None listed