Status: Ongoing First registered on: 12/09/2017
Last updated on: 23/03/2023
1. Study identification
EU PAS Register NumberEUPAS20599
Official titleA Prospective, Observational Registry of Patients with Fabry Disease
Study title acronymAT1001-030
Study typeObservational study
Brief description of the studyThis is a prospective, multi centre, multinational, observational, safety, effectiveness, and outcomes registry enrolling approximately 450 Fabry disease patients (approximately 250 patients in the primary migalastat treated group, 100 patients in the ERT-treated group, and 100 patients in the untreated group). Additionally, patients who previously participated in a migalastat clinical trial, long-term (>24 months treatment) migalastat patients and paediatric patients are eligible to enrol. These subpopulations will not count towards the 450-patient target. All patients will be followed for up to 5 years after enrolment. This is a registry to evaluate the effects of treatment on long-term safety, effectiveness, and quality of life (QOL) in patients with Fabry disease, with a main focus on migalastat, a medicine with a novel mechanism of action. Occurrence of key indicators of safety and effectiveness will be evaluated, such as cardiac, cerebrovascular and renal events, serious adverse events, and overall survival. A comparison of these events will be evaluated over a period of 5 years in migalastat-treated, ERT-treated (with amenable and non-amenable mutations), and untreated patients with Fabry disease who have amenable mutations. The subpopulations identified above will be analysed separately from the primary migalastat-treated, ERT-treated and untreated groups.
Was this study requested by a regulator?Yes: EMA
Is the study required by a Risk Management Plan (RMP)? EU RMP category 3 (required)
Regulatory procedure number (RMP Category 1 and 2 studies only)
Other study registration identification numbers and URLs as applicableEU/1/15/1082/001
2. Research centres and Investigator details
Coordinating study entity
Centre nameAmicus Therapeutics UK Limited
Centre locationMarlow, UK
Details of (Primary) lead investigator
Title Mrs
Last name Jasmine
First name Rutecki
Is this study being carried out with the collaboration of a research network?
Other centres where this study is being conducted
Multiple centres

In total how many centres are involved in this Study?80
Countries in which this study is being conducted
International study

United Kingdom
United States
3. Study timelines: initial administrative steps, progress reports and final report
Date when funding contract was signed01/12/2016
Start date of data collection03/05/201808/08/2018
Start date of data analysis
Date of interim report, if expected
Date of final study report03/05/2029
4. Sources of funding
Please provide estimates of the percentage of funding by source for this study
Names(s)Approximate % funding
Pharmaceutical companiesAmicus Therapeutics UK Limited100
Government body
Research councils
EU funding scheme
5. Contact details for enquiries
Scientific Enquiries
Title Mr
Last name Joseph
First name Guiliano
Address line 13675 Market Street
Address line 2 
Address line 3 
CountryUnited States
Phone number (incl. country code)16096622000 
Alternative phone number 
Fax number (incl. country code) 
Email address
Public Enquiries
Title Mr 
Last name Joseph 
First name Guiliano 
Address line 13675 Market Street 
Address line 2 
Address line 3 
CountryUnited States 
Phone number (incl. country code)16096622000 
Alternative phone number 
Fax number (incl. country code) 
Email address