Plain English Summary
Background and study aims
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disease that causes weakness in the muscles of the limbs, shoulders and face. Patients may suffer from shortness of breath, dizziness and loss of consciousness. In the researchers’ patient group heart problems seem to be less common, but problems including sudden death have been reported. It may be that an unknown injury of the heart leads to death or dangerous heart rhythm disturbances. Over the last couple of years cardiac (heart) MRI has become the gold standard method for looking at scars and other changes in the heart muscle (fat, inflammation). The aim of this study is to identify early heart muscle changes in patients with FSHD and their relationship with heart rhythm disturbances.
Who can participate?
Patients age 18 or over with FSHD, and healthy volunteers
What does the study involve?
All participants undergo a full examination by cardiologists including a cardiac MRI scan with both standard and new techniques to look for heart tissue injuries. Heart rhythm disturbances are assessed using an electrocardiogram (ECG).
What are possible benefits or risks of participating?
Participants receive a written report for their records including the basic assessment. The detection of early heart changes with MRI may help to improve treatment in the future. The MRI scan is prolonged by only about ten minutes. From a participant’s perspective no other burden is created by this study.
Where is the study run from?
Charité University Medicine Berlin (Germany)
When is the study starting and how long is it expected to run for?
September 2015 to May 2017
Who is funding the study?
Bayer Health Medical Care
Who is the main contact?
Prof. Jeanette Schulz-Menger
Trial website
Contact information
Type
Scientific
Primary contact
Prof Jeanette Schulz-Menger
ORCID ID
http://orcid.org/0000-0003-3100-1092
Contact details
Charité University Medicine Berlin Campus Buch
Working Group Kardiale MRT Lindenberger Weg 80
Berlin
13125
Germany
Additional identifiers
EudraCT number
ClinicalTrials.gov number
Protocol/serial number
FSHD-CMR (internal study code)
Study information
Scientific title
Cardiac involvement in facioscapulohumeral muscular dystrophy type 1 patients with preserved ejection fraction – assessment by cardiovascular magnetic resonance
Acronym
Study hypothesis
A prospective diagnostic trial to evaluate the efficacy of gadobutrol-enhanced cardiovascular magnetic resonance (CMR) at identifying myocardial tissue injury in facioscapulohumeral muscular dystrophy type 1 patients with preserved left ventricular function. This proof of concept trial is intended to extend the indications for CMR.
Ethics approval
Ethics board of the Charité University Medicine Berlin Campus Mitte, 03/09/2015, ref: EA1/169/15
Study design
It is a prospective diagnostic trial to evaluate the efficacy of gadobutrol-enhanced CMR to identify myocardial tissue injury in Facioscapulohumeral Muscular Dystrophy Type 1. This proof of concept trial is intended to extend the indications for CMR.
Primary study design
Observational
Secondary study design
Cohort study
Trial setting
Hospitals
Trial type
Diagnostic
Patient information sheet
Not available in web format, please use the contact details to request a patient information sheet
Condition
Facioscapulohumeral muscular dystrophy type 1
Intervention
After inclusion, the study participants undergo a CMR. Furthermore, an age- and gender-matched healthy control group is identified. They receive the same CMR protocol.
CMR is applied at a 1.5 T Scanner (MAGNETOM AvantoFit®, Siemens Healthcare, Erlangen, Germany) using a 32 channel surface coil. Cine imaging is performed applying state of the art steady state precession sequences to determine the global cardiac performance. For myocardial tissue differentiation, parametric T1 and T2 mapping, fat/water separated imaging and focal fibrosis imaging (Late Gadolinium Enhancement, LGE) are performed.
Intervention type
Other
Phase
Drug names
Primary outcome measures
Myocardial tissue injuries, detected using magnetic resonance imaging visually (qualitative) and quantitative including the presence and extent of lesions like fat and scar, measured at a single timepoint
Secondary outcome measures
Heart rhythm disturbances, assessed using ECG and ECG monitoring at a single timepoint
Overall trial start date
03/09/2015
Overall trial end date
03/05/2017
Reason abandoned
Eligibility
Participant inclusion criteria
1. Genetically confirmed diagnosis of FSHD1
2. Age ≥18 years (no upper limit)
3. Age- and gender-matched healthy control group
Participant type
Mixed
Age group
Adult
Gender
Both
Target number of participants
52
Participant exclusion criteria
Known vascular, cardiac diseases (e.g. coronary artery disease, significant valvular disease, myocarditis), malign diseases or known contraindications for CMR or Gadolinium- based contrast-media
Recruitment start date
03/09/2015
Recruitment end date
31/12/2016
Locations
Countries of recruitment
Germany
Trial participating centre
Working Group on Cardiovascular Magnetic Resonance
Experimental and Clinical Research Center, a joint cooperation between the Charité University Medicine Berlin and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Department of Cardiology and Nephrology
Lindenberger Weg 80
Berlin
13125
Germany
Sponsor information
Organisation
Charité University Medicine Berlin
Sponsor details
Working Group Kardiale MRT Lindenberger Weg 80
Berlin
13125
Germany
Sponsor type
University/education
Website
Funders
Funder type
Industry
Funder name
Bayer Health Medical Care
Alternative name(s)
Funding Body Type
Funding Body Subtype
Location
Results and Publications
Publication and dissemination plan
Results of this study shall be published in a high-ranking peer-reviewed journal.
IPD sharing statement
The datasets generated during and/or analysed during the current study are not expected to be made available due to data protection laws in Germany. However, upon request methodology and dataset structure can be shared.
Intention to publish date
31/08/2017
Participant level data
Not expected to be available
Results - basic reporting
Publication summary