Condition category
Nutritional, Metabolic, Endocrine
Date applied
27/01/2015
Date assigned
10/02/2015
Last edited
07/12/2016
Prospective/Retrospective
Prospectively registered
Overall trial status
Ongoing
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?
From February 2015 to December 2015

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

Who is the main contact?
Mrs Sharon Hulme
sharon.hulme@manchester.ac.uk

Trial website

Contact information

Type

Public

Primary contact

Mrs Sharon Hulme

ORCID ID

Contact details

Salford Royal NHS Foundation Trust
Clinical Sciences Building
Stott Lane
Salford
M6 8HD
United Kingdom
+44 0161 206 5755
sharon.hulme@manchester.ac.uk

Type

Scientific

Additional contact

Dr Craig Smith

ORCID ID

Contact details

Salford Royal NHS Foundation Trust
Clinical Sciences Building
Stott Lane
Salford
M6 8HD
United Kingdom
+440161 206 0623
craig.smith-2@manchester.ac.uk

Additional identifiers

EudraCT number

ClinicalTrials.gov number

Protocol/serial number

N/A

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

Acronym

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

Observational

Secondary study design

Trial setting

Hospitals

Trial type

Other

Patient information sheet

N/A

Condition

Fabry disease

Intervention

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

Biological/Vaccine

Phase

Drug names

Primary outcome measures

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

15/02/2015

Overall trial end date

31/12/2016

Reason abandoned

Eligibility

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

Patient

Age group

Adult

Gender

Both

Target number of participants

100 data records

Participant exclusion criteria

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

Recruitment start date

15/02/2015

Recruitment end date

31/12/2015

Locations

Countries of recruitment

United Kingdom

Trial participating centre

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

Sponsor information

Organisation

University of Manchester

Sponsor details

Room 3.53 Simon Building
Oxford Road
Manchester
M13 9PL
United Kingdom

Sponsor type

University/education

Website

Funders

Funder type

Not defined

Funder name

Investigator initiated and funded (UK)

Alternative name(s)

Funding Body Type

Funding Body Subtype

Location

Results and Publications

Publication and dissemination plan

To be confirmed at a later date

Intention to publish date

Participant level data

Available on request

Results - basic reporting

Publication summary

Publication citations

Additional files

Editorial Notes

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.