Condition category
Nervous System Diseases
Date applied
13/06/2017
Date assigned
25/07/2017
Last edited
25/07/2017
Prospective/Retrospective
Retrospectively registered
Overall trial status
Completed
Recruitment status
No longer recruiting

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

http://www.cmr-berlin.org

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

Publication citations

Additional files

Editorial Notes