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

NCT ID: NCT03696628

Last Updated: 2022-12-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

24 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-09-25

Study Completion Date

2021-01-20

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).

Conditions

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Cardiomyopathy, Familial

Keywords

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Cardiomyocytes Induced pluripotent stem cells Genetic cardiomyopathy

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

All participants receive the same intervention throughout the protocol, no matter if they are "healthy children" or "cardiomyopathic children".
Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Open : no masking us used. All involved know the identity of the intervention assignment.

Study Groups

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Healthy children

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

Group Type OTHER

Electrocardiogram

Intervention Type OTHER

heart testing

physical examination

Intervention Type OTHER

done by the investigator

echocardiography

Intervention Type OTHER

heart testing

blood test

Intervention Type BIOLOGICAL

A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes

Cardiomyopathic children

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

Group Type OTHER

Electrocardiogram

Intervention Type OTHER

heart testing

physical examination

Intervention Type OTHER

done by the investigator

echocardiography

Intervention Type OTHER

heart testing

blood test

Intervention Type BIOLOGICAL

A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes

Interventions

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Electrocardiogram

heart testing

Intervention Type OTHER

physical examination

done by the investigator

Intervention Type OTHER

echocardiography

heart testing

Intervention Type OTHER

blood test

A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes

Intervention Type BIOLOGICAL

Eligibility Criteria

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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


* 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)
Minimum Eligible Age

0 Years

Maximum Eligible Age

17 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital, Montpellier

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU Arnaud de Villeneuve

Montpellier, Occitanie, France

Site Status

Countries

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France

References

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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.

Reference Type RESULT
PMID: 33246213 (View on PubMed)

Other Identifiers

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2017-A01589-44

Identifier Type: REGISTRY

Identifier Source: secondary_id

9806

Identifier Type: -

Identifier Source: org_study_id