DM1
Conditions
Keywords
DM1, Cardiopathy, Adult
Brief summary
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.
Interventions
OTHERClinical examination, skin biopsy, blood and urine sampling
Sponsors
Institut de Myologie, France
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
20 Years to 50 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Measure of DM1 alterations in human cardiomyocytes derived from induced pluripotent stem cells | At baseline |
Secondary
| Measure | Time frame |
|---|---|
| Molecular changes in human DM1 cardiomyocytes expressing pathogenic CUGexp-RNA | At baseline |
Countries
France
Outcome results
None listed