Sophisticated Assessment of Disease Burden in Patients With Fabry Disease

Completed

• Conditions: Fabry Disease
• Interventions: Procedure: MRI

• Registration Number: NCT01210196
• Lead Sponsor: Shire

Brief Summary

To detect early signs of cardiac and metabolic alterations as well as to evaluate the progression of cardiac and metabolic impairments in mildly affected patients with Fabry Disease using high sensitive diagnostic methods.

Detailed Description

Observational Study Evaluating the use of cardiac MRI with late enhancement technique, Echocardiography, 24h Holter ECG, plasma Lyso-Gb3 and urinary Gb3, to identify early signs of progressive Fabry Disease.

Study Timeline

• Study First Submitted: 2010-09-25
• Study First Submitted QC: 2010-09-27
• Study First Posted: 2010-09-28
• Study Start: 2010-10-31
• Primary Completion: 2013-09-30
• Study Completion: 2013-09-30
• Status Verified: 2021-05
• Last Update Submitted: 2021-06-01
• Last Update Posted: 2021-06-03

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 36

Inclusion Criteria

1. Women: A confirmed exonic mutation within the α-Galactosidase gene Men: A confirmed exonic mutation within the α-Galactosidas gene and/or reduced α- Galactosidase activity
2. Female patients ≥ 25 years-old and male patients ≥ 25 years-old
3. The patient has not received enzyme replacement therapy for treatment of Fabry disease
4. The patient must have voluntarily signed an Institutional Review Board (IRB)/Independent Ethics Committee (IEC)-approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient
5. The patient has already mild symptoms of Fabry disease presented in at least one minor organ involvement, e.g. proteinuria 1, mild cardiac symptoms not needing treatment yet, pain attacks, gastrointestinal symptoms or history of TIA.

Exclusion Criteria

1. The patient has received ERT or investigational product(s) for any reason within 30 days prior to study entry.
2. Any contraindication for MRI-diagnosis
3. Incompatibility to MRI contrast agent (elevated serum creatinine - according to SPC of contrast medium) The patient is unable to comply with the protocol, e.g., has a clinically relevant medical condition making implementation of the protocol difficult; has an uncooperative attitude; is unable to return for study evaluations; or is otherwise unlikely to complete the study, as determined by the investigator.
4. Planned ERT within the next 24 months (nevertheless if a ERT becomes medically necessary in the observational period ERT might be introduced)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
mild affected Fabry patients	MRI	-

Primary Outcome Measures

Name	Time	Method
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months	24 months

Secondary Outcome Measures

Name	Time	Method
Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI	24 months

Trial Locations

Locations (11)

University of Mainz; 🇩🇪 Mainz, Germany

National University Hospital, Rigshospitalet; 🇩🇰 Copenhagen, Denmark

Uppsala University Hospital; 🇸🇪 Uppsala, Sweden

Charles University in Prague and General University Hospital in Prague; 🇨🇿 Praha, Czechia

ZNA Middelheim; 🇧🇪 Antwerp, Belgium

University Medical Center Hamburg-Eppendorf; 🇩🇪 Hamburg, Germany

University Hospital of Münster; 🇩🇪 Münster, Germany

University Hospital Würzburg; 🇩🇪 Würzburg, Germany

Institute of Pathology et de Génétique (IPG); 🇧🇪 Gosselies, Belgium

Turku University Hospital; 🇫🇮 Turku, Finland

Charité University Medicine Campus Mitte; 🇩🇪 Berlin, Germany