RaILRoAD Study
Research type
Research Study
Full title
Arrhythmia burden and risk of sudden death in patients with Fabry Disease: Role of implantable loop recorders (RaILRoAD).
IRAS ID
224749
Contact name
Richard Steeds
Contact email
Sponsor organisation
R&D office
Clinicaltrials.gov Identifier
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Fabry disease (FD) is a genetic disorder leading to progressive accumulation of ‘sphingolipid’ within tissues, including the heart muscle and conductive tissue. Improvements in detection of FD, together with more organised clinical services for rare diseases, has led to a rapid growth in the disease prevalence. Earlier and more frequent diagnosis of asymptomatic individuals before development of the disease itself has focussed attention on early detection of organ involvement and closer monitoring of disease progression. The introduction of enzyme replacement therapy within the last two decades has changed the natural history of FD as follows: a) increased life expectancy; b) improved morbidity; 3) modification of the main cause of morbidity and mortality from renal (kidney) to cardiovascular (heart) events, which include abnormal heart rhythms, stroke and sudden death. Although symptoms such as palpitations and blackouts are extremely common, information on the frequency of proven abnormal heart rhythms is limited. Additionally, the rate and appropriate use of life-saving treatments, including pacemakers and defibrillators, is very variable. The main markers of risk in similar diseases such as hypertrophic cardiomyopathy cannot be used in FD, as these have not been validated or do not work. While patients are routinely followed up with 24 hour heart monitors, a recent small study has emphasised that the burden of abnormal heart rhythms may be under-estimated in patients with advanced FD. The use of continuous heart monitoring with an implantable loop recorder (ILR) led to a significant change in treatment in 13 of 15 FD patients. We believe that more frequent use of ILRs will identify a greater burden of abnormal heart rhythms than currently detected, which will modify treatment that can reduce morbidity and mortality in this patient cohort. This will also provide valuable data to inform an estimate of future risk for these patients.
REC name
West Midlands - Edgbaston Research Ethics Committee
REC reference
17/WM/0421
Date of REC Opinion
10 Jan 2018
REC opinion
Further Information Favourable Opinion