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Fabry DiseaseFABRY400NCT03199001

Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases

An observational study of Fabry Disease, run by University College, London at 4 sites in 2 countries.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 9 years and older
Conditions the study is for
Fabry Disease
How many people
400 participants
Where
4 sitesin 2 countries
Study dates
19 Feb 2015to 19 Feb 2019
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 9 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: Fabry Disease patients recruited from Fabry outpatient clinics

Who may be able to join

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

Who cannot join

  • Any absolute contraindication to CMR
  • Pregnancy

Trial locations and contacts

4 sites in 2 countries.

James Moon, MD contact

j.moon@ucl.ac.uk

4 sites in 2 countries

United Kingdom3 sites, 3 recruiting

  • University Hospital Birmingham

    Birmingham

    Shanat Baig, MRCP, shanat.baig@nhs.net

    Richard P Steeds, PhD

    Recruiting

  • Royal Free Hospital

    London

    Sabrina Nordin, sabrina.nordin@nhs.net

    James C Moon, MD

    Recruiting

  • The Heart Hospital, University College London Hospital

    London

    Sabrina Nordin, MRCP, sabrina.nordin@nhs.net

    James C Moon, MD

    Recruiting

Other trials in United Kingdom

Australia1 site, 1 recruiting

  • University of Sydney

    Sydney

    Rebecca Kozor, PhD, rebeccakozor@gmail.com

    Rebecca Kozor, PhD

    Recruiting

Other trials in Australia

About this study

Official title: 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.

Read the 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).

Conditions
Fabry Disease
Keywords
Fabry Disease, T1 Mapping, Cardiovascular Magnetic Resonance
Medical subject headings
Fabry Disease

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Presence of storage in Fabry cardiomyopathy

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

    Measured: 1 hour

Secondary outcomes (2)

  1. Presence of inflammation in Fabry cardiomyopathy

    Presence or absence of inflammation (measured in milliseconds) by T2 mapping by CMR

    Measured: 1 hour

  2. Change in storage measure

    Change in storage measure (measured in milliseconds) by T1 mapping by CMR

    Measured: 12 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted26 Jun 2017
  2. Study start19 Feb 2015
  3. Primary completion19 Aug 2018 (estimated)
  4. Study completion19 Feb 2019 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
400 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03199001
Sponsor's protocol ID
14/0354
Acronym
FABRY400
Status last verified
Jun 2017
First submitted
19 Jun 2017
Last updated
26 Jun 2017
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • 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.

    PubMed 23564562

  • 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.

    PubMed 25475749

  • 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.

    PubMed 25808629

  • 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.

    PubMed 41176334

  • 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.

    PubMed 30282640

Questions about this trial

What is this clinical trial studying?

An observational study of Fabry Disease, run by University College, London at 4 sites in 2 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: status not confirmed, as of the sponsor's last update on 26 Jun 2017. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 4 sites in United Kingdom, Australia. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Contact James Moon, MD (j.moon@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Presence of storage in Fabry cardiomyopathy (time frame: 1 hour). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03199001, which also lists 5 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jun 2017.

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