Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

Institut de Myologie, France

Status: Completed

Conditions: DM1

Treatments: Other: Clinical examination, skin biopsy, blood and urine sampling

Study type: Interventional

Funder types: Other

Identifiers

NCT02084407

DM1-Fibroblasts

Details and patient eligibility

About

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.

Enrollment: 12 patients

Sex: All

Ages: 20 to 50 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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12 participants in 3 patient groups

DM1 subject with cardiopathy

Active Comparator group

Description:

Clinical examination, Skin biopsy, Blood and urine sampling

Treatment:

Other: Clinical examination, skin biopsy, blood and urine sampling

DM1 subject without cardiopathy

Active Comparator group

Description:

Clinical examination, Skin biopsy, Blood and urine sampling

Treatment:

Other: Clinical examination, skin biopsy, blood and urine sampling

Not DM1subject

Active Comparator group

Description:

Clinical examination, Skin biopsy, Blood and urine sampling

Treatment:

Other: Clinical examination, skin biopsy, blood and urine sampling