Characterisation of Heart Involvement in Fabry Disease With T1 Mapping (T1)
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|ClinicalTrials.gov Identifier: NCT04708301|
Recruitment Status : Completed
First Posted : January 13, 2021
Last Update Posted : October 20, 2021
Fabry disease is a rare lysosomal storage disorder characterised by a genetic deficiency in the α-galactosidase enzyme. This deficiency leads to a progressive accumulation of a fatty substance, called glycosphingolipids within a specific part of our cells called the lysosome. This lysosomal accumulation can have devastating effects on patients with Fabry disease, affecting multiple organs. Heart involvement is particularly feared because it is the leading cause of death in Fabry disease.
Cardiovascular magnetic resonance imaging (cardiac MRI) is a relatively new heart imaging technique. A cardiac MRI technique called T1 mapping can measure the magnetic relaxation properties of heart tissue. T1 mapping is important in Fabry disease because glycosphingolipids have distinct magnetic relaxation properties. The abnormal build up of glycosphingolipid within the heart may be detectable using T1 mapping. This accumulation of glycosphingolipid could identify an earlier form of Fabry disease. Moreover, it is postulated that T1 mapping may inform prognosis and response to therapy.
Whilst promising, further investigation and development of this innovative technique in Fabry disease is required. This study aims to find out more about T1 mapping in Fabry disease. Patients referred for clinical cardiac MRI scanning will also undergo T1 mapping. T1 mapping results will be correlated with other markers of disease severity. This will allow heart muscle T1 to be determined in a larger population of Fabry patients than currently exists in the literature and T1 to be characterised across a wider range of Fabry disease severity than currently exists in the literature.
|Condition or disease||Intervention/treatment|
|Fabry Disease||Diagnostic Test: T1 mapping|
|Study Type :||Observational|
|Actual Enrollment :||200 participants|
|Official Title:||Characterisation of Heart Involvement in Fabry Disease With T1 Mapping|
|Actual Study Start Date :||March 12, 2014|
|Actual Primary Completion Date :||December 31, 2020|
|Actual Study Completion Date :||December 31, 2020|
- Diagnostic Test: T1 mapping
T1 mapping is a specialised heart scan that measures the magnetic properties of heart tissue and displays them as an image or map
- Myocardial T1 relaxation time [ Time Frame: through study completion, an average of 3 years ]T1 time derived from myocardial T1 mapping
- Left ventricular ejection fraction [ Time Frame: through study completion, an average of 3 years ]Derived from left ventricular volumetric cine imaging
- Left ventricular mass [ Time Frame: through study completion, an average of 3 years ]Derived from left ventricular volumetric cine imaging
- Right ventricular ejection fraction [ Time Frame: through study completion, an average of 3 years ]Derived from right ventricular volumetric cine imaging
- Myocardial T2 relaxation time [ Time Frame: through study completion, an average of 3 years ]T2 time derived from myocardial T2 mapping
- Adverse events [ Time Frame: Retrospective - data collection to be finalised by the end of February 2021 ]Exploratory composite end-point of adverse events during follow-up
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04708301
|Manchester Univiersty Foundation Trust|
|Manchester, United Kingdom, M239LT|