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

NCT03696628 | Completed

• 2 other identifiers: 98062017-A01589-44
• Study Type: interventional
• Target: 24
• Locations: 1 country
• Sites: 1

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.

Conditions

Cardiomyopathy, Familial

Keywords

Cardiomyocytes; Induced pluripotent stem cells; Genetic cardiomyopathy

Outcome Measures

Primary Outcomes (1)

• hiPSC-cardiomyocytes culture

  Blood test with generated hiPSC-cardiomyocytes

  Inclusion visit

Study Arms (2)

Healthy children

OTHER

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

Other: Electrocardiogram; Other: physical examination; Other: echocardiography; Biological: blood test

Cardiomyopathic children

OTHER

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

Other: Electrocardiogram; Other: physical examination; Other: echocardiography; Biological: blood test

Interventions

Electrocardiogram OTHER

heart testing

Cardiomyopathic children; Healthy children

physical examination OTHER

done by the investigator

Cardiomyopathic children; Healthy children

echocardiography OTHER

heart testing

Cardiomyopathic children; Healthy children

blood test BIOLOGICAL

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

Cardiomyopathic children; Healthy children

Eligibility Criteria

• Age: 0 Years - 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• 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
• 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
• Heart, muscle or respiratory disease
• Treatment with cardiac resonance
• Other chronic diseases (diabetes, neuropathy, kidney failure, tumor)

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

CHU Arnaud de Villeneuve

Montpellier, Occitanie, 34090, France

Location

Related Publications (1)

• 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.

  PMID: 33246213 RESULT

MeSH Terms

Conditions

Cardiomyopathies

Interventions

Restraint, Physical; Hematologic Tests

Condition Hierarchy (Ancestors)

Heart Diseases; Cardiovascular Diseases

Intervention Hierarchy (Ancestors)

Behavior Control; Therapeutics; Immobilization; Investigative Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Masking Details: Open : no masking us used. All involved know the identity of the intervention assignment.
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

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

Study Record Dates

• First Submitted: August 7, 2018
• First Posted: October 4, 2018
• Study Start: September 25, 2017
• Primary Completion: January 20, 2021
• Study Completion: January 20, 2021
• Last Updated: December 14, 2022

Record last verified: 2022-07

Locations

FR (1)