Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases

NCT03199001 | Unknown DMC

• 1 other identifier: 14/0354
• Study Type: observational
• Target: 400
• Locations: 2 countries
• Sites: 4

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.

Conditions

Fabry Disease

Keywords

Fabry Disease; T1 Mapping; Cardiovascular Magnetic Resonance

Outcome Measures

Primary Outcomes (1)

• Presence of storage in Fabry cardiomyopathy

  Presence or absence of storage (measured in milliseconds) by T1 mapping by CMR

  1 hour

Secondary Outcomes (2)

• Presence of inflammation in Fabry cardiomyopathy

  1 hour

• Change in storage measure

  12 months

Eligibility Criteria

• Age: 9 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Fabry Disease patients recruited from Fabry outpatient clinics

You may qualify if:

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

You may not qualify if:

• Any absolute contraindication to CMR
• Pregnancy

Sponsors & Collaborators

• University College, London: lead
• University Hospital Birmingham: collaborator
• University of Sydney: collaborator

Study Sites (4)

University of Sydney

Sydney, Australia

RECRUITING

University Hospital Birmingham

Birmingham, United Kingdom

RECRUITING

Royal Free Hospital

London, United Kingdom

RECRUITING

The Heart Hospital, University College London Hospital

London, United Kingdom

RECRUITING

Related Publications (5)

• Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G, Fontana M, Maestrini V, Flett AS, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Neubauer S, Elliott PM, Moon JC. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging. 2013 May 1;6(3):392-8. doi: 10.1161/CIRCIMAGING.112.000070. Epub 2013 Apr 5.

  PMID: 23564562 BACKGROUND

• Pica S, Sado DM, Maestrini V, Fontana M, White SK, Treibel T, Captur G, Anderson S, Piechnik SK, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Kellman P, Elliott PM, Herrey AS, Moon JC. Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 2014 Dec 5;16(1):99. doi: 10.1186/s12968-014-0099-4.

  PMID: 25475749 BACKGROUND

• Nappi C, Altiero M, Imbriaco M, Nicolai E, Giudice CA, Aiello M, Diomiaiuti CT, Pisani A, Spinelli L, Cuocolo A. First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease. Eur J Nucl Med Mol Imaging. 2015 Jun;42(7):1025-31. doi: 10.1007/s00259-015-3036-3. Epub 2015 Mar 26.

  PMID: 25808629 BACKGROUND

• Cheepvasarach C, Gribble M, Ugander M, Vijapurapu R, Nordin S, Augusto J, Steeds RP, Tchan M, Moon JC, Pathan F, Kozor R. Left atrial strain tracks abnormal ventricular mechanics in Fabry disease. Open Heart. 2025 Oct 31;12(2):e003385. doi: 10.1136/openhrt-2025-003385.

  PMID: 41176334 DERIVED

• Vijapurapu R, Nordin S, Baig S, Liu B, Rosmini S, Augusto J, Tchan M, Hughes DA, Geberhiwot T, Moon JC, Steeds RP, Kozor R. Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease. Heart. 2019 Mar;105(6):470-476. doi: 10.1136/heartjnl-2018-313699. Epub 2018 Oct 3.

  PMID: 30282640 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Serum, plasma and urine samples

MeSH Terms

Conditions

Fabry Disease

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

Central Study Contacts

James Moon, MD

CONTACT

j.moon@ucl.ac.uk

Study Design

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

Study Record Dates

• First Submitted: June 19, 2017
• First Posted: June 26, 2017
• Study Start: February 19, 2015
• Primary Completion: August 19, 2018
• Study Completion: February 19, 2019
• Last Updated: June 26, 2017

Record last verified: 2017-06

Data Sharing

• IPD Sharing: Will not share

Locations

AU (1); GB (3)