Condition category
Circulatory System
Date applied
04/02/2015
Date assigned
13/02/2015
Last edited
24/03/2016
Prospective/Retrospective
Prospectively registered
Overall trial status
Ongoing
Recruitment status
Recruiting

Plain English Summary

Background and study aims
Inherited Arrhythmia Syndromes (IAS) are caused by changes (mutations) in the genetic make-up of the heart (genes form the pattern of molecules within cells that are inherited from our parents). Heart cells are electrically charged, like a battery so any changes in the make-up of the cell (gene mutations) can cause disruptions to the rhythm of the heart. The heart beat can become irregular (arrhythmia) and sometimes it can stop completely, leading to death. Studying living heart cells is very difficult but this study hopes to take advantage of a new technique that allows scientists to obtain heart cells from samples of skin taken from patients with IAS. The cells obtained from such samples are similar enough to the cells of the heart muscle it is possible to study to effect of the mutations on the electrical properties of the heart. We can determine the cause of arrhythmias and sudden death and then test new therapies within a laboratory. Ultimately this will increase our understanding of IAS and lead to targeted treatments.

Who can participate?
Adult patient with confirmed diagnosis of inherited condition OR family member of patient with inherited condition

What does the study involve?
Collection of sample tissues.

What are the possible benefits and risks of participating?
The benefit is increased understanding of IAS leading to the development of new treatments. There are no risks, other than slight discomfort associated with obtaining a skin biopsy.

Where is the study run from?
Central Manchester NHS Foundation Trust (UK)

When is the study starting and how long is it expected to run for?
From April 2015 to March 2017

Who is funding the study?
University of Manchester

Who is the main contact?
Dr Luigi Venetucci
luigi.venetucci@manchester.ac.uk

Trial website

Contact information

Type

Scientific

Primary contact

Dr Luigi Venetucci

ORCID ID

Contact details

Institute of Cardiovascular Sciences
University of Manchester
Core Technology Facility
Grafton Street
Manchester
M13 9NT
United Kingdom
+44 (0)161 275 1202
luigi.venetucci@manchester.ac.uk

Additional identifiers

EudraCT number

ClinicalTrials.gov number

Protocol/serial number

V1; 09/02/2015

Study information

Scientific title

Use of cardiac myocytes derived from skin fibroblasts to study patients with Inherited Arrhythmia Syndromes (IAS)

Acronym

Study hypothesis

Discovery science - no hypothesis

Ethics approval

RES Committee North West - Greater Manchester Central, 29/04/2015, ref: 15/NW/0301

Study design

Prospective tissue sample and data collection

Primary study design

Interventional

Secondary study design

Tissue sample

Trial setting

Hospitals

Trial type

Screening

Patient information sheet

Condition

Inherited Arrhthymia Syndromes

Intervention

Skin biopsy in order to derive cardiac cells

Intervention type

Procedure/Surgery

Phase

Drug names

Primary outcome measures

Derivation of cardiac myocytes from skin fibroblasts obtained from patients affected by inherited arrhythmia syndromes and their family members.

Secondary outcome measures

1. Identification of new genes in patients with inherited arrhythmia syndromes
2. Testing of new treatment strategies for inherited cardiac conditions

Overall trial start date

01/04/2015

Overall trial end date

30/03/2017

Reason abandoned

Eligibility

Participant inclusion criteria

1. Confirmed diagnosis of inherited condition OR family member of patient with inherited condition
2. Aged > 18
3. Informed consent available

Participant type

Patient

Age group

Adult

Gender

Both

Target number of participants

50

Participant exclusion criteria

1. Unwilling or unable to give informed consent
2. Age <18

Recruitment start date

01/04/2015

Recruitment end date

30/03/2017

Locations

Countries of recruitment

United Kingdom

Trial participating centre

Central Manchester NHS Foundation Trust
Manchester Royal infirmary Grafton Street
Manchester
M13 9WL
United Kingdom

Sponsor information

Organisation

University of Manchester

Sponsor details

3.53 Simon Building
University of Manchester
Oxford Road
Manchester
M13 9PL
United Kingdom
+44 (0) 161 275 8795
fmhsethics@manchester.ac.uk

Sponsor type

University/education

Website

Funders

Funder type

University/education

Funder name

University of Manchester

Alternative name(s)

Funding Body Type

Funding Body Subtype

Location

Results and Publications

Publication and dissemination plan

Plan to publish in high impact peer-reviewed journals of Cardiology but this is unlikely to be before 2017.

Intention to publish date

31/12/2017

Participant level data

Available on request

Results - basic reporting

Publication summary

Publication citations

Additional files

Editorial Notes

24/03/2016: Ethics approval information added.