Condition category
Nervous System Diseases
Date applied
Date assigned
Last edited
Retrospectively registered
Overall trial status
Recruitment status
No longer recruiting
Publication status

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



Primary contact

Prof Jeanette Schulz-Menger


Contact details

Charité University Medicine Berlin Campus Buch
Working Group Kardiale MRT Lindenberger Weg 80

Additional identifiers

EudraCT number 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


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


Secondary study design

Cohort study

Trial setting


Trial type


Patient information sheet

Not available in web format, please use the contact details to request a patient information sheet


Facioscapulohumeral muscular dystrophy type 1


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



Drug names

Primary outcome measure

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


Overall trial end date


Reason abandoned (if study stopped)


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


Age group




Target number of participants


Total final enrolment


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


Recruitment end date



Countries of recruitment


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

Sponsor information


Charité University Medicine Berlin

Sponsor details

Working Group Kardiale MRT Lindenberger Weg 80

Sponsor type




Funder type


Funder name

Bayer Health Medical Care

Alternative name(s)

Funding Body Type

Funding Body Subtype


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


Participant level data

Not expected to be available

Basic results (scientific)

Publication list

2019 results in:

Publication citations

Additional files

Editorial Notes

08/04/2020: Internal review. 30/04/2019: The following changes were made to the trial record: 1. Publication reference added. 2. The total final enrolment was added. 04/09/2018: The overall trial end date has been changed from 03/05/2017 to 15/12/2018