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
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
Scientific
Charité University Medicine Berlin Campus Buch
Working Group Kardiale MRT Lindenberger Weg 80
Berlin
13125
Germany
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
Lindenberger Weg 80
Berlin
13125
Germany
Sponsor information
University/education
Working Group Kardiale MRT Lindenberger Weg 80
Berlin
13125
Germany
Website | http://www.cmr-berlin.org |
---|---|
https://ror.org/001w7jn25 |
Funders
Funder type
Industry
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