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NCT Number: NCT03696628

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

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.

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Key information

Age range

0 year–17 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Arnaud de Villeneuve

Montpellier, Occitanie, 34090, France

About this study

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).

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Electrocardiogram

Other

heart testing

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

Primary outcomes

  1. hiPSC-cardiomyocytes culture

    Time frame: Inclusion visit

    Blood test with generated hiPSC-cardiomyocytes

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Registry information

Official study title

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

Acronym: DMDstem

Important dates

Study start
2017
Primary completion
2021
Study completion
2021
First posted
Oct 4, 2018
Registry last updated
Dec 14, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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