A Study of Migalastat in Fabry Disease

Overview

Fabry disease is a rare metabolic condition characterised by the widespread deposition of sphingolipids in multiple organ systems. Cardiac involvement is common, it occurs in fifty percent of patients and it is the leading cause of death. Despite this, heart and blood vessel (cardiovascular system) manifestations of Fabry disease remain poorly characterised, and it remains unclear which patients benefit from therapy, or when therapy should be initiated. Migalastat is increasingly used to treat fabry disease however the impact of Migalastat on the cardiovascular system is poorly understood. Detailed assessment of the impact of Migalastat on heart and blood vessel structure and function is urgently needed. This observational study will use state of the art, non-invasive investigations to provide greater understanding of the cardiovascular manifestations of Fabry disease and the effects of Migalastat. It will provide insight into which patients respond more effectively to Migalastat, which in turn will facilitate personalisation of therapy, optimisation of the timing of therapy initiation and more cost-effective care.

This is a prospective longitudinal observational study of patients starting Migalastat as part of routine care. Participants will be recruited from outpatient clinics and have a number of investigations before starting therapy and after twelve months of therapy. Investigations will include a detailed assessment of symptoms and clinical features, blood tests, echocardiography, detailed cardiac MRI scans, heart rhythm monitoring and exercise capacity assessment. Parameters will be assessed at baseline and at twelve months.

Conditions

Interventions