Duchenne or Becker muscular dystrophy Nervous System Diseases Duchenne or Becker muscular dystrophy
Conditions
Interventions
Participants providing informed written consent will undergo MR-imaging of heart at study entry, if a scan has not already been performed within the previous six months. Imaging will include late-Gado
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Genetically confirmed Duchenne or Becker muscular dystrophy (BDMD) or female BDMD-mutation carriers with similar severity of left ventricular dysfunction 2. Aged =18 years 3. Left ventricular ejection fraction by echocardiographic assessment between 15 and 35% 4. No history or evidence of ventricular arrhythmias (syncope/pre-syncope, cardiac arrest, AV-nodal heart block, or sinus arrest) 5. Already established on appropriate cardiac medications for cardiomyopathy (typically an angiotensin-converting enzyme (ACE) inhibitor or an angiotensin receptor blocker (ARB), or a beta blocker with or without a mineralocorticoid antagonist) 6. Willing and able to undergo cardiac magnetic resonance imaging including late-Gadolinium enhanced sequences (or using similar scar detection methods). If unable to undergo cardiac magnetic resonance imaging for safety reasons (day-time ventilated, degree of muscle contractures, claustrophobia, etc.) or do not tolerate imaging, participants can be enrolled in the arrhythmia surveillance part of the protocol without having cMRI imaging.
Exclusion criteria
Exclusion criteria: 1. Uncertain aetiology of muscular dystrophy even if a similar degree of cardiomyopathy 2. Uncertainty about ability, or inability, to provide informed written consent as determined by the investigator 3. Poor quality of life due to the overall severity of condition or co-morbidities (such as depression, respiratory failure, or inadequate pain control) at the physician's discretion 4. Unlikely to comply with follow-up of their implanted ECG-loop recorder as determined by the investigator 5. Non-compliant with recommended cardiac medications for reasons other than intolerance or adverse effects
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Extent, distribution, and architecture of the scarring process that occurs in the hearts of patients with Duchenne or Becker muscular dystrophy (BDMD) measured from MR-imaging (late-Gadolinium enhanced sequences) of the heart using specialist analysis software at baseline or within the 6 months prior to study recruitment 2. Scar burden and scar characteristic between a BDMD cohort and cohort of patients following anterior myocardial infarction or idiopathic dilated cardiomyopathy with similar degrees of reduced left ventricular ejection fraction (15-40%) measured from MR-imaging (late-Gadolinium enhanced sequences) of the heart using specialist analysis software at baseline or within the 6 months prior to study recruitment 3. Prevalence of asymptomatic/minimally symptomatic abnormally fast or slow disturbances of heart rhythm in BDMD patients, or female gene-carriers, with reduced left ventricular ejection fraction (15-40%) measured using implanted loop recorders (Medtronic LinQ device or similar) which provide comprehensive rhythm surveillance between baseline and 6 months of device implant | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Quality of life measured using the questionnaires Short Form Survey (SF-36), Individualized Neuromuscular Quality of Life Questionnaire (INQoL), or similar questionnaire at baseline and 6 months | — |
Countries
England, United Kingdom
Outcome results
None listed