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 measure
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 (if study stopped)
Lack of staff/facilities/resources
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
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
private sector organisation
Funding Body Subtype
Universities (academic only)
Location
United Kingdom
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
Basic results (scientific)
Publication list