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

Sponsor

University Hospital, Montpellier (Other)

Overall Status

Completed

CT.gov ID

NCT03696628

Collaborator

(none)

Enrollment

Location

Arms

51.7

Actual Duration (Months)

0.5

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Cardiomyopathy, Familial	Other: Electrocardiogram Other: physical examination Other: echocardiography Biological: blood test	N/A

Detailed Description

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).

Study Design

Study Type:

Interventional

Actual Enrollment :

24 participants

Allocation:

Non-Randomized

Intervention Model:

Parallel Assignment

Intervention Model Description:

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

Masking:

None (Open Label)

Masking Description:

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

Primary Purpose:

Basic Science

Official Title:

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

Actual Study Start Date :

Sep 25, 2017

Actual Primary Completion Date :

Jan 15, 2021

Actual Study Completion Date :

Jan 15, 2022

Arms and Interventions

Arm	Intervention/Treatment
Other: Healthy children Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.	Other: Electrocardiogram heart testing Other: physical examination done by the investigator Other: echocardiography heart testing Biological: blood test A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes
Other: Cardiomyopathic children Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.	Other: Electrocardiogram heart testing Other: physical examination done by the investigator Other: echocardiography heart testing Biological: blood test A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes

Arm

Intervention/Treatment

Other: Healthy children

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

Other: Electrocardiogram

heart testing

Other: physical examination

done by the investigator

Other: echocardiography

heart testing

Biological: blood test

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

Other: Cardiomyopathic children

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

Other: Electrocardiogram

heart testing

Other: physical examination

done by the investigator

Other: echocardiography

heart testing

Biological: blood test

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

Outcome Measures

Primary Outcome Measures

hiPSC-cardiomyocytes culture [Inclusion visit]
Blood test with generated hiPSC-cardiomyocytes

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Years to 17 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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)

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CHU Arnaud de Villeneuve	Montpellier	Occitanie	France	34090

Sponsors and Collaborators

University Hospital, Montpellier

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

University Hospital, Montpellier

ClinicalTrials.gov Identifier:

NCT03696628

Other Study ID Numbers:

9806
2017-A01589-44

First Posted:

Oct 4, 2018

Last Update Posted:

Jul 19, 2022

Last Verified:

Jul 1, 2022

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by University Hospital, Montpellier

Cardiomyocytes

Induced pluripotent stem cells

Genetic cardiomyopathy

Additional relevant MeSH terms:

Cardiomyopathies

Study Results

No Results Posted as of Jul 19, 2022