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| ID | Type | Description | Link |
|---|---|---|---|
| 2017-A01589-44 | Registry Identifier | ID-RCB |
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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.
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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Healthy children | Other | Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography. |
|
| Cardiomyopathic children | Other | Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Electrocardiogram | Other | heart testing |
| |
| Measure | Description | Time Frame |
|---|---|---|
| hiPSC-cardiomyocytes culture | Blood test with generated hiPSC-cardiomyocytes | Inclusion visit |
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Group 1 : Child with genetic cardiomyopathy
Inclusion criteria
Criterion of non-inclusion
. Cardiomyopathy of non-genetic origin (metabolic, toxic, malformative, etc.)
Group 2 : Healthy child
Inclusion criteria
Criterion of non-inclusion
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Arnaud de Villeneuve | Montpellier | Occitanie | 34090 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33246213 | Result | Souidi M, Amedro P, Meyer P, Desprat R, Lemaitre JM, Rivier F, Lacampagne A, Meli AC. Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, DMD_OuMen_PhyMedEXp (INSRMi008-A, INSRMi009-A and INSRMi010-A). Stem Cell Res. 2020 Dec;49:102094. doi: 10.1016/j.scr.2020.102094. Epub 2020 Nov 19. |
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All participants receive the same intervention throughout the protocol, no matter if they are "healthy children" or "cardiomyopathic children".
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Open : no masking us used. All involved know the identity of the intervention assignment.
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| physical examination |
| Other |
done by the investigator |
|
| echocardiography | Other | heart testing |
|
| blood test | Biological | A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes |
|
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| ID | Term |
|---|---|
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
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| ID | Term |
|---|---|
| D012149 | Restraint, Physical |
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D032763 | Behavior Control |
| D013812 | Therapeutics |
| D007103 | Immobilization |
| D008919 | Investigative Techniques |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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