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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01210196
Other study ID # Shire/CS01
Secondary ID
Status Completed
Phase
First received
Last updated
Start date October 31, 2010
Est. completion date September 30, 2013

Study information

Verified date May 2021
Source Takeda
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Completed
Enrollment 36
Est. completion date September 30, 2013
Est. primary completion date September 30, 2013
Accepts healthy volunteers No
Gender All
Age group 25 Years and older
Eligibility Inclusion Criteria: 1. Women: A confirmed exonic mutation within the a-Galactosidase gene Men: A confirmed exonic mutation within the a-Galactosidas gene and/or reduced a- 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


Related Conditions & MeSH terms


Intervention

Procedure:
MRI
Cardiac MRI after 12 and 24 months.

Locations

Country Name City State
Belgium ZNA Middelheim Antwerp
Belgium Institute of Pathology et de Génétique (IPG) Gosselies
Czechia Charles University in Prague and General University Hospital in Prague Praha
Denmark National University Hospital, Rigshospitalet Copenhagen
Finland Turku University Hospital Turku
Germany Charité University Medicine Campus Mitte Berlin
Germany University Medical Center Hamburg-Eppendorf Hamburg
Germany University of Mainz Mainz
Germany University Hospital of Münster Münster
Germany University Hospital Würzburg Würzburg
Sweden Uppsala University Hospital Uppsala

Sponsors (1)

Lead Sponsor Collaborator
Shire

Countries where clinical trial is conducted

Belgium,  Czechia,  Denmark,  Finland,  Germany,  Sweden, 

Outcome

Type Measure Description Time frame Safety issue
Primary Number of fibrotic left ventricular segments at baseline and after 12 and 24 months 24 months
Secondary Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI 24 months
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