Heart muscle changes in facioscapulohumeral muscular dystrophy type 1 applying cardiac magnetic resonance

ISRCTN	ISRCTN13744381
DOI	https://doi.org/10.1186/ISRCTN13744381
Secondary identifying numbers	FSHD-CMR (internal study code)

Submission date: 13/06/2017
Registration date: 25/07/2017
Last edited: 08/04/2020

Recruitment status: No longer recruiting
Overall study status: Completed
Condition category: Nervous System Diseases

Prospectively registered

Protocol

Statistical analysis plan

Results

Individual participant data

Plain English summary of protocol

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

Contact information

Prof Jeanette Schulz-Menger
Scientific

Charité University Medicine Berlin Campus Buch
Working Group Kardiale MRT Lindenberger Weg 80
Berlin
13125
Germany

ORCID ID	0000-0003-3100-1092

Study information

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
Study setting(s)	Hospital
Study type	Diagnostic
Participant information sheet	Not available in web format, please use the contact details to request a patient information sheet
Scientific title	Cardiac involvement in facioscapulohumeral muscular dystrophy type 1 patients with preserved ejection fraction – assessment by cardiovascular magnetic resonance
Study objectives	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(s)	Ethics board of the Charité University Medicine Berlin Campus Mitte, 03/09/2015, ref: EA1/169/15
Health condition(s) or problem(s) studied	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
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 study start date	03/09/2015
Completion date	15/12/2018

Eligibility

Participant type(s)	Mixed
Age group	Adult
Lower age limit	18 Years
Sex	Both
Target number of participants	52
Total final enrolment	52
Key inclusion criteria	1. Genetically confirmed diagnosis of FSHD1 2. Age ≥18 years (no upper limit) 3. Age- and gender-matched healthy control group
Key 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
Date of first enrolment	03/09/2015
Date of final enrolment	31/12/2016

Locations

Countries of recruitment

Germany

Study 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

Charité University Medicine Berlin
University/education

Working Group Kardiale MRT Lindenberger Weg 80
Berlin
13125
Germany

Website	http://www.cmr-berlin.org
"ROR"	https://ror.org/001w7jn25

Funders

Funder type

Industry

Bayer Health Medical Care

No information available

Results and Publications

Intention to publish date	31/08/2017
Individual participant data (IPD) Intention to share	No
IPD sharing plan summary	Not expected to be made available
Publication and dissemination plan	Results of this study shall be published in a high-ranking peer-reviewed journal.
IPD sharing plan	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.

Study outputs

Output type	Details	Date created	Date added	Peer reviewed?	Patient-facing?
Results article	results	29/04/2019		Yes	No

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