Condition category
Musculoskeletal Diseases
Date applied
26/08/2017
Date assigned
29/11/2017
Last edited
29/11/2017
Prospective/Retrospective
Retrospectively registered
Overall trial status
Ongoing
Recruitment status
Recruiting

Plain English Summary

Background and study aims
Facioscapulohumeral muscular dystrophy (FSHD) and Myotonic dystrophy Type 2 (PROMM) are a genetic disease that causes weakness in the skeletal muscles. Patients may suffer from heart problems like dangerous heart rhythm disturbances, shortness of breath also sudden death have been reported. It is suspected that an unknown injury of the heart can be a reason. Over the last couple of year’s cardiac magnetic resonance imaging (MRI) (a type of scan that uses strong magnetic fields and radio waves to create an image of the heart) has become the best method for looking at scars and other changes in the heart muscle (fat, inflammation). The aim of this study is to identify heart muscle changes within of 2-4 years in patients with DM1/FSHD and its relation to heart rhythm disturbances.

Who can participate?
Participants who have a FSHD Type 1 and PROMM

What does the study involve?
All participants get a detailed work-up by a cardiologist (heart doctor) including a cardiac MRI due to muscle dystrophy. The participant receives a cardiac MRI protocol and innovative techniques. This prolongs the MRI scan by only approximately ten minutes. There are no additional applications of contrast-media or medication.

What are the possible benefits and risks of participating?
Participants may benefit from the detection of early myocardial changes applying MRI may help to stratify further therapy and has a potential impact on prognosis and heart muscle remodeling. The clinical results will also be available for each patient. There are no direct risks with participating.

Where is the study run from?
This study is a work group Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center, a joint cooperation between the Charité University Medicine Berlin (Germany) and the Max-Delbrueck Center for Molecular Medicine (Germany), and HELIOS Klinikum Berlin Buch, Department of Cardiology and Nephrology, Berlin (Germany).

When is the study starting and how long is it expected to run for?
November 2016 to January 2019

Who is funding the study?
Charité University Medicine Berlin (Germany)

Who is the main contact?
Professor 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

MD-CMR- Follow-up

Study information

Scientific title

Cardiac involvement in muscular dystrophies assessment by cardiovascular magnetic resonance: follow up study

Acronym

Study hypothesis

The aim of this prospective diagnostic follow up trial is to evaluate the efficacy of a comprehensive cardiovascular magnetic resonance (CMR) protocol to predict myocardial tissue injury and heart rhythm abnormalities in facioscapulohumeral muscular dystrophy type 1 (FSHD1) patients and myotonic dystrophy Type 2 (DM2, PROMM) patients.

Ethics approval

Charité University Medicine Berlin Campus Mitte, 10/04/2017, ref: EA1/042/17

Study design

Prospective diagnostic follow-up trial

Primary study design

Observational

Secondary study design

Longitudinal 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

Patients with a genetically confirmed diagnosis FSHD Type 1 and PROMM who took part in a previous studies

Intervention

Participants receive a detailed work up (including an ECG, Holter and Echocardiogram) by a cardiologist. The participants undergo a CMR. They receive the same CMR protocol as during the previous study.

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.

There are no additional treatments.

Intervention type

Procedure/Surgery

Phase

Drug names

Primary outcome measures

Increase of myocardial tissue injuries is measured using magnetic resonance imaging visually looking for presence and extent of lesions like fat and scar as well as diffuse myocardial changes at yearly follow up.

Secondary outcome measures

Heart rhythm disturbances is measured using ECG and ECG monitoring at yearly follow up

Overall trial start date

01/11/2016

Overall trial end date

01/01/2019

Reason abandoned

Eligibility

Participant inclusion criteria

FSHD and PROMM patients who took part in the previous study PROMM 2013, FSHD 2015/2016

Participant type

Patient

Age group

Adult

Gender

Both

Target number of participants

84

Participant exclusion criteria

1. Known vascular, cardiac diseases (e.g. coronary artery disease, significant valvular disease, myocarditis)
2. Malign diseases or known contraindications for CMR
3. Gadolinium-based contrast-media

Recruitment start date

10/04/2017

Recruitment end date

01/08/2018

Locations

Countries of recruitment

Germany

Trial participating centre

Charité University Medicine Berlin
Lindenberger Weg 80
Berlin
13125
Germany

Trial participating centre

Max-Delbrueck Center for Molecular Medicine
Robert-Rössle-Straße 10
Berlin
13125
Germany

Trial participating centre

HELIOS Klinikum Berlin Buch
Department of Cardiology and Nephrology
Berlin
-
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

University/education

Funder name

Charité – Universitätsmedizin Berlin

Alternative name(s)

Funding Body Type

private sector organisation

Funding Body Subtype

corporate

Location

Germany

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 reasons of data protection laws in Germany. However, upon request methodology and dataset structure can be shared.

Intention to publish date

31/12/2018

Participant level data

Not expected to be available

Results - basic reporting

Publication summary

2016 protocol in: https://www.ncbi.nlm.nih.gov/pubmed/27363857

Publication citations

Additional files

Editorial Notes