Induction of Pluripotent Stem Cells From Human Fibroblasts of DM1 Patients

September 25, 2014 updated by: Institut de Myologie, France
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

12

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75013
        • Institute of Myology

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

20 years to 50 years (Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

Arms and Interventions

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

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut de Myologie, France

Investigators

  • Principal Investigator: Laurent Servais, MD PhD, Institute of Myology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2013

Primary Completion (Actual)

August 1, 2014

Study Completion (Actual)

August 1, 2014

Study Registration Dates

First Submitted

March 4, 2014

First Submitted That Met QC Criteria

March 7, 2014

First Posted (Estimate)

March 12, 2014

Study Record Updates

Last Update Posted (Estimate)

September 26, 2014

Last Update Submitted That Met QC Criteria

September 25, 2014

Last Verified

March 1, 2014

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • DM1-Fibroblasts

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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