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

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. Identifier: NCT03199001
Recruitment Status : Unknown
Verified June 2017 by University College, London.
Recruitment status was:  Recruiting
First Posted : June 26, 2017
Last Update Posted : June 26, 2017
University Hospital Birmingham
University of Sydney
Information provided by (Responsible Party):
University College, London

Brief Summary:

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.

Condition or disease
Fabry Disease

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).

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Study Type : Observational
Estimated Enrollment : 400 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases- A New Method to Improve Patient Care
Actual Study Start Date : February 19, 2015
Estimated Primary Completion Date : August 19, 2018
Estimated Study Completion Date : February 19, 2019

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Presence of storage in Fabry cardiomyopathy [ Time Frame: 1 hour ]
    Presence or absence of storage (measured in milliseconds) by T1 mapping by CMR

Secondary Outcome Measures :
  1. Presence of inflammation in Fabry cardiomyopathy [ Time Frame: 1 hour ]
    Presence or absence of inflammation (measured in milliseconds) by T2 mapping by CMR

  2. Change in storage measure [ Time Frame: 12 months ]
    Change in storage measure (measured in milliseconds) by T1 mapping by CMR

Biospecimen Retention:   Samples With DNA
Serum, plasma and urine samples

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.

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Ages Eligible for Study:   9 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Fabry Disease patients recruited from Fabry outpatient clinics

Inclusion Criteria:

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

Exclusion Criteria:

  • Any absolute contraindication to CMR
  • Pregnancy

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 identifier (NCT number): NCT03199001

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Contact: James Moon, MD

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University of Sydney Recruiting
Sydney, Australia
Contact: Rebecca Kozor, PhD   
Principal Investigator: Rebecca Kozor, PhD         
United Kingdom
University Hospital Birmingham Recruiting
Birmingham, United Kingdom
Contact: Shanat Baig, MRCP   
Principal Investigator: Richard P Steeds, PhD         
Royal Free Hospital Recruiting
London, United Kingdom
Contact: Sabrina Nordin   
Principal Investigator: James C Moon, MD         
The Heart Hospital, University College London Hospital Recruiting
London, United Kingdom
Contact: Sabrina Nordin, MRCP   
Principal Investigator: James C Moon, MD         
Sponsors and Collaborators
University College, London
University Hospital Birmingham
University of Sydney

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University College, London Identifier: NCT03199001    
Other Study ID Numbers: 14/0354
First Posted: June 26, 2017    Key Record Dates
Last Update Posted: June 26, 2017
Last Verified: June 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University College, London:
Fabry Disease
T1 Mapping
Cardiovascular Magnetic Resonance
Additional relevant MeSH terms:
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Fabry Disease
Rare Diseases
Disease Attributes
Pathologic Processes
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders