Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases (FABRY400)

June 23, 2017 updated by: University College, London

Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases- A New Method to Improve Patient Care

Fabry Disease (FD) is a rare, X-linked lysosomal storage disorder leading to left ventricular hypertrophy, myocardial fibrosis, arrhythmia and heart failure. Cardiac involvement is the leading cause of death in FD. Treatment with enzyme replacement therapy is expensive, may be poorly targeted and there are difficulties in early detection and disease monitoring. T1 mapping signal change is a potential remarkable biomarker for FD.

Fabry400 is a multicentre study aiming to understand the biology of Fabry Disease and its relationship to non-invasive multi parametric mapping by CMR.

Study Overview

Status

Unknown

Conditions

Detailed Description

Our understanding of cardiac involvement in FD is limited because the myocyte storage cannot be assessed non-invasively. However with the development of CMR T1 mapping this maybe possible. T1 mapping demonstrated excellent discrimination between FD and other causes of LVH, and this property is highly suggestive of a direct but intricate relationship between T1 signals and abnormal fat storage. Specifically, 50% of patients without LVH have low T1 values, suggesting that T1 is an early disease marker in FD. This property may prove particularly useful for assessing disease progression and treatment response in early disease.

In CMR, LGE in FD characteristically occurs in the basal inferolateral wall. LGE is associated with a poor response to therapy and adverse outcomes. Hybrid imaging with PET/MR has shown that some FD LGE may be inflammation. T2 mapping may be useful as it is a sensitive detector of inflammation and oedema, for example discriminating acute from chronic myocardial infarction, and diagnosing myocarditis, particularly in the setting of chronic myocarditis or heart failure.

The aims of this study are:

  1. Improve the diagnosis of cardiac involvement by recognition of early disease
  2. Detect early changes and responses to therapy
  3. Improve the understanding of the pathophysiology of cardiac involvement using multiparametric mapping by CMR

Study Method:

This is a cohort observational study of FD patients including children, patients starting ERT, ERT naïve patients and LVH positive patients. Follow up scans at 6 months and 12 months will be done on patients starting ERT. CMR Scanning will use T1 and T2 mapping techniques against established gold-standard sequences. The patients will also have ECHO and ECG. Blood biomarkers will be collected (serum, plasma and urine).

Study Type

Observational

Enrollment (Anticipated)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Australia
      • Sydney, Australia
        • Recruiting
        • University of Sydney
        • Contact:
        • Principal Investigator:
          • Rebecca Kozor, PhD
  • United Kingdom
      • Birmingham, United Kingdom
        • Recruiting
        • University Hospital Birmingham
        • Contact:
        • Principal Investigator:
          • Richard P Steeds, PhD
      • London, United Kingdom
        • Recruiting
        • Royal Free Hospital
        • Contact:
        • Principal Investigator:
          • James C Moon, MD
      • London, United Kingdom
        • Recruiting
        • The Heart Hospital, University College London Hospital
        • Principal Investigator:
          • James C Moon, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

9 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Fabry Disease patients recruited from Fabry outpatient clinics

Description

Inclusion Criteria:

  • Gene-positive Fabry Disease
  • Male or female
  • Age at least 9 years

Exclusion Criteria:

  • Any absolute contraindication to CMR
  • Pregnancy

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Presence of storage in Fabry cardiomyopathy
Time Frame: 1 hour
Presence or absence of storage (measured in milliseconds) by T1 mapping by CMR
1 hour

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Presence of inflammation in Fabry cardiomyopathy
Time Frame: 1 hour
Presence or absence of inflammation (measured in milliseconds) by T2 mapping by CMR
1 hour
Change in storage measure
Time Frame: 12 months
Change in storage measure (measured in milliseconds) by T1 mapping by CMR
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University College, London

Collaborators

University of Sydney
University Hospital Birmingham

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

February 19, 2015

Primary Completion (ANTICIPATED)

August 19, 2018

Study Completion (ANTICIPATED)

February 19, 2019

Study Registration Dates

First Submitted

June 19, 2017

First Submitted That Met QC Criteria

June 23, 2017

First Posted (ACTUAL)

June 26, 2017

Study Record Updates

Last Update Posted (ACTUAL)

June 26, 2017

Last Update Submitted That Met QC Criteria

June 23, 2017

Last Verified

June 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 14/0354

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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