Condition category
Nutritional, Metabolic, Endocrine
Date applied
Date assigned
Last edited
Prospectively registered
Overall trial status
Recruitment status
No longer recruiting

Plain English Summary

Background and study aims
Fabry disease is an inherited disorder that results from the build-up of a particular type of fat (globotriaosylceramide) in the body's cells. Beginning in childhood, this build-up causes signs and symptoms that affect many parts of the body including the brain. In the brain, small groups of dead cells clump together in the white matter and are known as white-matter lesions. These lesions may lead to a high risk of early dementia, stroke or death. Little is known about the development of white-matter lesions and how they relate to other factors (e.g., age, sex or smoking) or how they are affected by treatment of Fabry disease with ERT. Salford Royal NHS Foundation Trust (UK) has a database of patients with Fabry disease in the northwest of England. The aim in this study is to look in detail at the relation between ERT and progression of brain lesions in Fabry disease so as to understand how the incidence and burden of the lesions change over time.

Who can participate?
Adults with Fabry disease who have had two MRI scans, 1 year apart

What does the study involve?
The size of the white-matter lesions will be measured over time and this information will be used alongside details of age, sex, risk factors for stroke/heart disease and treatment with ERT.

What are the possible benefits and risks of participating?
There are no known benefits or risks to participants taking part in this study

Where is the study run from?
Salford Royal NHS Foundation Trust (UK)

When is the study starting and how long is it expected to run for?
February 2015 to December 2015

Who is funding the study?
Investigator initiated and funded (UK)

Who is the main contact?
Mrs Sharon Hulme

Trial website

Contact information



Primary contact

Mrs Sharon Hulme


Contact details

Salford Royal NHS Foundation Trust
Clinical Sciences Building
Stott Lane
M6 8HD
United Kingdom
+44 0161 206 5755



Additional contact

Dr Craig Smith


Contact details

Salford Royal NHS Foundation Trust
Clinical Sciences Building
Stott Lane
M6 8HD
United Kingdom
+440161 206 0623

Additional identifiers

EudraCT number

Nil known number


Protocol/serial number

Nil known

Study information

Scientific title

Magnetic resonance imaging of effect of enzyme replacement therapy on progression of cerebral white-matter lesions in Fabry disease: an observational study


Study hypothesis

1. Does treatment of Fabry disease with enzyme replacement therapy (ERT) affect the build up and progression of white matter lesions?
2. White matter lesions can increase the risk of stroke and dementia and it is important to assess if treatment with ERT increases this risk

Ethics approval

NRES Committee West Midlands - South Birmingham, 19/02/2015, ref: 15/WM/0064

Study design

Observational study

Primary study design


Secondary study design

Trial setting


Trial type


Patient information sheet


Fabry disease


Retrospective analysis of a database and serial magnetic resonance imaging (MRI) scans to assess:
1. Progression of white matter lesions in patients with Fabry disease
2. Relation between disease progression and treatment with ERT

Intervention type



Not Applicable

Drug names

Primary outcome measure

Prevalence and burden of white matter lesions over time: MRI scans at baseline and at 2 years will be compared for evidence of white-matter lesions using a visual severity rating scale

Secondary outcome measures

Progression of white matter lesions: MRI scans at baseline and at 2 years will be compared for evidence of white-matter lesions using a visual severity rating scale

Overall trial start date


Overall trial end date


Reason abandoned (if study stopped)


Participant inclusion criteria

1. Confirmed diagnosis of Fabry disease
2. Age at least 18 years old
3. Being followed up at Salford Royal NHS Foundation Trust (UK)
4. Registered in Fabry disease registry
5. At least two serial MRI brain scans (1 year apart)

Participant type


Age group




Target number of participants

100 data records

Total final enrolment


Participant exclusion criteria

1. New patient
2. No serial MRI scans
3. MRI scans of insufficient quality for analysis

Recruitment start date


Recruitment end date



Countries of recruitment

United Kingdom

Trial participating centre

Salford Royal NHS Foundation Trust
Clinical Sciences Building Stott lane
M6 8HD
United Kingdom

Sponsor information


University of Manchester

Sponsor details

Room 3.53 Simon Building
Oxford Road
M13 9PL
United Kingdom

Sponsor type




Funder type

Not defined

Funder name

Investigator initiated and funded (UK)

Alternative name(s)

Funding Body Type

Funding Body Subtype


Results and Publications

Publication and dissemination plan

Planned publication.

IPD sharing statement:
The datasets generated during and/or analysed during the current study are/will be available upon request from Dr Ana Jovanovic

Intention to publish date


Participant level data

Available on request

Basic results (scientific)

See additional file (ISRCTN14072182_BasicResults_18Dec17_v1)

Publication list

2018 results in: (added 14/06/2019)

Publication citations

Additional files

Editorial Notes

21/06/2019: number added. 14/06/2019: Publication reference and total final enrolment number added. 26/01/2018: The basic results of this trial have been uploaded as an additional file. 07/12/2016: The overall trial end date has been updated from 31/12/2015 to 31/12/2016. 04/04/2016: Ethics approval information added.