Clinical trial NCT03696628: Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells (DMDstem)
Official title: Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Cardiomyopathy, Familial
Keywords: Cardiomyocytes
Induced pluripotent stem cells
Genetic cardiomyopathy
Lead sponsor: University Hospital, Montpellier
Sponsor class: OTHER
First posted: 2018-10-04
Enrollment: 24
Sex: ALL
Minimum age (years): 0
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Intervention model description: All participants receive the same intervention throughout the protocol, no matter if they are "healthy children" or "cardiomyopathic children".
Primary purpose: BASIC_SCIENCE

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).

Eligibility 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)

Primary outcomes:
measure: hiPSC-cardiomyocytes culture
timeFrame: Inclusion visit
Secondary outcomes:
Other outcomes:
Locations:
city: Montpellier
country: France
facility: CHU Arnaud de Villeneuve
state: Occitanie
Study officials:
References:
citation: 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.