Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle (CLUE)

July 2, 2020 updated by: University of Dundee

Cellular Reprogramming as a Tool to Characterise the Cellular Electrophysiology of Familial Arrhythmia

Hereditary cardiac arrhythmias (genetically caused disturbances of heart rhythm) are life threatening conditions affecting otherwise healthy young individuals. Due to the inaccessibility of heart tissue, the abnormal electrical current(s) in the heart cells causing the rhythm disturbance can be difficult to study in detail and therefore in many cases remain untreatable. The investigators propose to study heart cell electrical function from such patients by reprogramming skin cells to become stem cells and then differentiating them to heart muscle cells.

The hypothesis of the study is that the differentiated cardiac cells will display electrical abnormalities dependent on the mutation causing the disease. These abnormalities can therefore provide a clue as to the nature of the mutation causing the disease or information about its effective management

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

2

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

  • United Kingdom
    • Angus
      • Dundee, Angus, United Kingdom, DD1 9SY
        • University of Dundee

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

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Arrhythmic patients participating in the Familial Arrhythmia Network Scotland (FANS)

Description

Inclusion Criteria:

  • Clinical features of Brugada Syndrome (ECG findings)
  • mutation positive or mutation negative
  • Idiopathic ventricular fibrillation

Exclusion Criteria:

  • not able to give informed consent
  • Age less than 18 years
  • clinical diagnosis ambiguous

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

Cohorts and Interventions

Group / Cohort
Hereditary VF
Patients with hereditary ventricular fibrillation, negative for known mutations
Brugada
Patients suffering from Brugada syndrome

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Derivation of iPS cells
Time Frame: 12 months
Induced pluripotent cells will be derived from all participants in the study. Differences in the efficiency of iPS cell generation from different patients will be recorded, and correlated with disease status and age. iPS cell generation will be confirmed by pluripotency markers (stable endogenous gene expression of Nanog, Oct4, Sox2; colony formation; expression of SSEA4) and ability to differentiate in the absence of self-renewal stimulus (ability to self-renew in the absence of self-renewal stimulus -loss of markers above)
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Differentiation of iPS cells to cardiomyocytes
Time Frame: 12 months
The ability of each iPS cell line to differentiate into spontaneously beating cardiomyocytes will be assessed. Efficiency of differentiation per lina and per patient will be recorded.
12 months
Electrophysiology on iPS-derived cardiomyocytes
Time Frame: 12 months
Ability to collect electrophysiological measurements from iPS-derived cardiomyocytes will be asssessed. Resting membrane potential, Ca2+, K+ current function and sponteneous and induced depolarisation will be measured per line and per patient. Correlations with patient disease phenotype will be recorded.
12 months

Collaborators and Investigators

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

Sponsor

University of Dundee

Investigators

  • Principal Investigator: Marios P Stavridis, PhD, University of Dundee

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 (ACTUAL)

June 1, 2013

Primary Completion (ACTUAL)

June 1, 2017

Study Completion (ACTUAL)

June 1, 2017

Study Registration Dates

First Submitted

May 15, 2013

First Submitted That Met QC Criteria

May 27, 2013

First Posted (ESTIMATE)

May 31, 2013

Study Record Updates

Last Update Posted (ACTUAL)

July 7, 2020

Last Update Submitted That Met QC Criteria

July 2, 2020

Last Verified

July 1, 2020

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 2012CA04
  • T13/21 (OTHER_GRANT: Tenovus Tayside)

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.

Clinical Trials on Eletrophysiology of iPS-derived Cardiomyocytes

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Liberia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe