Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

Study Overview
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Brief Summary
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The objective of the study is the modelisation of human cardiomyocyts from pluripotent stem cells in order to study the cardiac alterations induced by CTG expansions.

Official Title
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Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

Conditions
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DM1

Intervention / Treatment
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* Other: Clinical examination, skin biopsy, blood and urine sampling


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria for DM1 patient with cardiomyopathy: aged 20-50 DM1 confirmed by molecular analysis Confirmed cardiomyopathy (infrahissiens conduction disorders) able to sign the consent form affiliated to european social security. Inclusion Criteria for DM1 patient without cardiomyopathy aged 20-50 DM1 confirmed by molecular analysis No cardiomyopathy (no infrahissiens conduction disorders or other trouble linked to DM1) able to sign the consent form affiliated to european social security. Inclusion Criteria for controls aged over 18 brother, sister, father or mother of the DM1 patient No DM1 confirmed by molecular analysis (CTG repetition under 38) No cardiac disorders. able to sign the consent form affiliated to european social security. Exclusion Criteria: no pragnant or nursing women patient unable to understand informed consent patient under juridic protection

Ages Eligible for Study
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Minimum Age: 20 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: DM1 subject with cardiopathy<br>Clinical examination, Skin biopsy, Blood and urine sampling | Other: Clinical examination, skin biopsy, blood and urine sampling<br> <br> |
| Active Comparator: DM1 subject without cardiopathy<br>Clinical examination, Skin biopsy, Blood and urine sampling | Other: Clinical examination, skin biopsy, blood and urine sampling<br> <br> |
| Active Comparator: Not DM1subject<br>Clinical examination, Skin biopsy, Blood and urine sampling | Other: Clinical examination, skin biopsy, blood and urine sampling<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Measure of DM1 alterations in human cardiomyocytes derived from induced pluripotent stem cells |  | At baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Molecular changes in human DM1 cardiomyocytes expressing pathogenic CUGexp-RNA |  | At baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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DM1, Cardiopathy, Adult