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Characterisation of Heart Involvement in Fabry Disease With T1 Mapping

NCT04708301 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2021-10-20

No results posted yet for this study

Summary

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.

Conditions

Interventions

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

Sponsors & Collaborators

  • Northern Care Alliance NHS Foundation Trust

    collaborator OTHER

  • Manchester University NHS Foundation Trust

    lead OTHER_GOV

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-03-12
Primary Completion
2020-12-31
Completion
2020-12-31

Countries

  • United Kingdom

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04708301 on ClinicalTrials.gov