Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells (DMDstem) (DMDstem)
Primary Purpose
Cardiomyopathy, Familial
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Electrocardiogram
physical examination
echocardiography
blood test
Sponsored by
About this trial
This is an interventional basic science trial for Cardiomyopathy, Familial focused on measuring Cardiomyocytes, Induced pluripotent stem cells, Genetic cardiomyopathy
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)
Sites / Locations
- CHU Arnaud de Villeneuve
Arms of the Study
Arm 1
Arm 2
Arm Type
Other
Other
Arm Label
Healthy children
Cardiomyopathic children
Arm Description
Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Outcomes
Primary Outcome Measures
hiPSC-cardiomyocytes culture
Blood test with generated hiPSC-cardiomyocytes
Secondary Outcome Measures
Full Information
NCT ID
NCT03696628
First Posted
August 7, 2018
Last Updated
December 13, 2022
Sponsor
University Hospital, Montpellier
1. Study Identification
Unique Protocol Identification Number
NCT03696628
Brief Title
Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells (DMDstem)
Acronym
DMDstem
Official Title
Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells
Study Type
Interventional
2. Study Status
Record Verification Date
July 2022
Overall Recruitment Status
Completed
Study Start Date
September 25, 2017 (Actual)
Primary Completion Date
January 20, 2021 (Actual)
Study Completion Date
January 20, 2021 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Montpellier
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. 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.
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).
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Cardiomyopathy, Familial
Keywords
Cardiomyocytes, Induced pluripotent stem cells, Genetic cardiomyopathy
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Model Description
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.
Allocation
Non-Randomized
Enrollment
24 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Healthy children
Arm Type
Other
Arm Description
Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Arm Title
Cardiomyopathic children
Arm Type
Other
Arm Description
Blood test with generated hiPSC-cardiomyocytes Physical Examination. Electrocardiogram. Echocardiography.
Intervention Type
Other
Intervention Name(s)
Electrocardiogram
Intervention Description
heart testing
Intervention Type
Other
Intervention Name(s)
physical examination
Intervention Description
done by the investigator
Intervention Type
Other
Intervention Name(s)
echocardiography
Intervention Description
heart testing
Intervention Type
Biological
Intervention Name(s)
blood test
Intervention Description
A sample of blood will be taken to each patient or healthy children in order to generate hiPSC-cardiomyocytes
Primary Outcome Measure Information:
Title
hiPSC-cardiomyocytes culture
Description
Blood test with generated hiPSC-cardiomyocytes
Time Frame
Inclusion visit
10. Eligibility
Sex
All
Minimum Age & Unit of Time
0 Years
Maximum Age & Unit of Time
17 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
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)
Facility Information:
Facility Name
CHU Arnaud de Villeneuve
City
Montpellier
State/Province
Occitanie
ZIP/Postal Code
34090
Country
France
12. IPD Sharing Statement
Citations:
PubMed Identifier
33246213
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.
Results Reference
result
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Modeling and Pharmacological Targeting of Genetic Cardiomyopathy in Children Via Cardiomyocytes Derived From Induced Pluripotent Stem Cells (DMDstem)
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