Characterisation of Heart Involvement in Fabry Disease With T1 Mapping

NCT04708301 | Completed

• 2 other identifiers: 2014CD002REC Reference No.
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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

Fabry Disease

Keywords

Fabry disease; Cardiomyopathy; Cardiac Magnetic Resonance Imaging; T1 mapping

Outcome Measures

Primary Outcomes (1)

• Myocardial T1 relaxation time

  T1 time derived from myocardial T1 mapping

  through study completion, an average of 3 years

Secondary Outcomes (5)

• Left ventricular ejection fraction

  through study completion, an average of 3 years

• Left ventricular mass

  through study completion, an average of 3 years

• Right ventricular ejection fraction

  through study completion, an average of 3 years

• Myocardial T2 relaxation time

  through study completion, an average of 3 years

• Adverse events

  Retrospective - data collection to be finalised by the end of February 2021

Interventions

T1 mapping DIAGNOSTIC_TEST

T1 mapping is a specialised heart scan that measures the magnetic properties of heart tissue and displays them as an image or map

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Fabry disease who are undergoing cardiac MRI scanning as part of their usual clinical care.

You may qualify if:

• Patients with Fabry disease Patients attending for a clinical cardiac MRI scan

You may not qualify if:

• Patients who have a contraindication to cardiac MRI scanning (including pacemakers, defibrillators, intra-ocular metal, prohibitive intracranial aneurysm clips, severe claustrophobia, inability to lie flat).

Sponsors & Collaborators

• Manchester University NHS Foundation Trust: lead
• Northern Care Alliance NHS Foundation Trust: collaborator

Study Sites (1)

Manchester Univiersty Foundation Trust

Manchester, M239LT, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Biobanking of blood samples for use in future ethically approved research

MeSH Terms

Conditions

Fabry Disease; Cardiomyopathies

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Heart Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 11, 2021
• First Posted: January 13, 2021
• Study Start: March 12, 2014
• Primary Completion: December 31, 2020
• Study Completion: December 31, 2020
• Last Updated: October 20, 2021

Record last verified: 2021-10

Locations

GB (1)