Status:
COMPLETED
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Lead Sponsor:
Shire
Conditions:
Fabry Disease
Eligibility:
All Genders
25+ years
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 sensiti...
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 D...
Eligibility Criteria
Inclusion
- 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
- Female patients ≥ 25 years-old and male patients ≥ 25 years-old
- The patient has not received enzyme replacement therapy for treatment of Fabry disease
- 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
- 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
- The patient has received ERT or investigational product(s) for any reason within 30 days prior to study entry.
- Any contraindication for MRI-diagnosis
- 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.
- Planned ERT within the next 24 months (nevertheless if a ERT becomes medically necessary in the observational period ERT might be introduced)
Key Trial Info
Start Date :
October 31 2010
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 30 2013
Estimated Enrollment :
36 Patients enrolled
Trial Details
Trial ID
NCT01210196
Start Date
October 31 2010
End Date
September 30 2013
Last Update
June 3 2021
Active Locations (11)
Enter a location and click search to find clinical trials sorted by distance.
1
ZNA Middelheim
Antwerp, Belgium, B-2020
2
Institute of Pathology et de Génétique (IPG)
Gosselies, Belgium, B-6041
3
Charles University in Prague and General University Hospital in Prague
Prague, Czechia, 12808
4
National University Hospital, Rigshospitalet
Copenhagen, Denmark, DK-2100