Clinical trial NCT03949920: A Study of Migalastat in Fabry Disease
Official title: A Prospective Observational Study Investigating the Impact of Migalastat on Cardiovascular Structure and Function in Fabry Disease
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Fabry Disease
Keywords: Fabry
Anderson-Fabry
Migalastat
Lead sponsor: Manchester University NHS Foundation Trust
Sponsor class: OTHER_GOV
Collaborators: name: Northern Care Alliance NHS Foundation Trust
First posted: 2019-05-14
Enrollment: 21
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Fabry disease commencing Migalastat as part of routine care.

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

Confirmed Fabry disease Aged 16 or over Beginning clinical treatment with Migalastat

Exclusion Criteria:

Contraindication to cardiac MRI

Primary outcomes:
measure: Indexed Left Ventricular Mass (grams/m2)
timeFrame: 12 months
Secondary outcomes:
measure: Change in BSA-indexed LV volumes measured using cardiac MRI, from baseline to 12 months (mls/m2)
timeFrame: 12 months
measure: Change LV ejection fraction, measured using cardiac MRI (%)
timeFrame: 12 months
measure: Change in myocardial extracellular volume, measured using cardiac MRI (%)
timeFrame: 12 months
measure: Change in myocardial tissue T1 and T2 times measured using cardiac MRI (ms)
timeFrame: 12 months
measure: Change in pulmonary artery systolic pressure, measured using echocardiography (mmHg)
timeFrame: 12 months
measure: Change in myocardial PCr/ATP ratio, measured using cardiac MRI spectroscopy (ratio)
timeFrame: 12 months
measure: Change in the number of extra heart beats in a 24 hour period, measured using ambulatory heart monitoring. (number)
timeFrame: 12 months
measure: Change in exercise capacity - Six minute walk test (meters)
timeFrame: 12 months
measure: 20. Change in health status (quality of life), measured using change in SF-36 score. (score)
timeFrame: 12 months
measure: Change in Lyso-GB3 blood test levels (nmol/L)
timeFrame: 12 months
measure: Change in Troponin blood test levels (ng/L)
timeFrame: 12 months
measure: Change in NT pro BNP blood test levels (pg/L)
timeFrame: 12 months
Other outcomes:
Locations:
city: Manchester
country: United Kingdom
facility: Manchester University Foundation Trust
city: Manchester
country: United Kingdom
facility: Salford Royal NHS Foundation Trust
Study officials:
References: