Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

DM1 Clinical Trial

Official title:

Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02084407
• Other study ID #: DM1-Fibroblasts
• Status: Completed
• Phase: N/A
• First received: March 4, 2014
• Last updated: September 25, 2014
• Start date: November 2013
• Est. completion date: August 2014

Study information

• Verified date: March 2014
• Source: Institut de Myologie, France
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: August 2014
• Est. primary completion date: August 2014
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 20 Years to 50 Years

Eligibility

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

Study Design

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Basic Science

Related Conditions & MeSH terms

• DM1

Intervention

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

Locations

Country	Name	City	State
France	Institute of Myology	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Institut de Myologie, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Measure of DM1 alterations in human cardiomyocytes derived from induced pluripotent stem cells		At baseline	No
Secondary	Molecular changes in human DM1 cardiomyocytes expressing pathogenic CUGexp-RNA		At baseline	No