Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Characterisation of Heart Involvement in Fabry Disease With T1 Mapping (T1)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04708301
Recruitment Status : Completed
First Posted : January 13, 2021
Last Update Posted : October 20, 2021
Sponsor:
Collaborator:
Salford Royal NHS Foundation Trust
Information provided by (Responsible Party):
Manchester University NHS Foundation Trust

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.


Condition or disease Intervention/treatment
Fabry Disease Diagnostic Test: T1 mapping

Show Show detailed description

Layout table for study information
Study Type : Observational
Actual Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine



Intervention Details:
  • 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


Primary Outcome Measures :
  1. Myocardial T1 relaxation time [ Time Frame: through study completion, an average of 3 years ]
    T1 time derived from myocardial T1 mapping


Secondary Outcome Measures :
  1. Left ventricular ejection fraction [ Time Frame: through study completion, an average of 3 years ]
    Derived from left ventricular volumetric cine imaging

  2. Left ventricular mass [ Time Frame: through study completion, an average of 3 years ]
    Derived from left ventricular volumetric cine imaging

  3. Right ventricular ejection fraction [ Time Frame: through study completion, an average of 3 years ]
    Derived from right ventricular volumetric cine imaging

  4. Myocardial T2 relaxation time [ Time Frame: through study completion, an average of 3 years ]
    T2 time derived from myocardial T2 mapping

  5. 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
Biobanking of blood samples for use in future ethically approved research


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Fabry disease who are undergoing cardiac MRI scanning as part of their usual clinical care.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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).


Information from the National Library of Medicine

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


Locations
Layout table for location information
United Kingdom
Manchester Univiersty Foundation Trust
Manchester, United Kingdom, M239LT
Sponsors and Collaborators
Manchester University NHS Foundation Trust
Salford Royal NHS Foundation Trust
Layout table for additonal information
Responsible Party: Manchester University NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT04708301    
Other Study ID Numbers: 2014CD002
REC Reference No. ( Other Identifier: 14/NW/0064 )
First Posted: January 13, 2021    Key Record Dates
Last Update Posted: October 20, 2021
Last Verified: October 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Manchester University NHS Foundation Trust:
Fabry disease
Cardiomyopathy
Cardiac Magnetic Resonance Imaging
T1 mapping
Additional relevant MeSH terms:
Layout table for MeSH terms
Fabry Disease
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
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders