Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

N/ACompletedNCT02084407

Institut de Myologie, France12 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

DM1

Interventions

Clinical examination, skin biopsy, blood and urine samplingOTHER

Eligibility

Sex: ALLMin age: 20 YearsMax age: 50 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Institute of Myology

Paris, France

Outcomes

Primary Outcomes

Measure of DM1 alterations in human cardiomyocytes derived from induced pluripotent stem cells

Time frame: At baseline

Secondary Outcomes

Molecular changes in human DM1 cardiomyocytes expressing pathogenic CUGexp-RNA

Time frame: At baseline

Data from ClinicalTrials.gov

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