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Sophisticated Assessment of Disease Burden in Patients With Fabry Disease (SOPHIA)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT01210196
First received: September 25, 2010
Last updated: March 25, 2014
Last verified: March 2014

September 25, 2010
March 25, 2014
October 2010
September 2013   (final data collection date for primary outcome measure)
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months [ Time Frame: 24 months ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT01210196 on ClinicalTrials.gov Archive Site
Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI [ Time Frame: 24 months ] [ Designated as safety issue: No ]
Same as current
Not Provided
Not Provided
 
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study

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.

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.

Observational
Time Perspective: Prospective
Not Provided
Not Provided
Non-Probability Sample

Male and female patients with a genetically confirmed Fabry disease.

Fabry Disease
Procedure: MRI
Cardiac MRI after 12 and 24 months.
Other Name: MRT (German)
mild affected Fabry patients
Intervention: Procedure: MRI
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
36
Not Provided
September 2013   (final data collection date for primary outcome measure)

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)
Both
25 Years and older
No
Contact information is only displayed when the study is recruiting subjects
Belgium,   Czech Republic,   Denmark,   Finland,   Germany,   Sweden
 
NCT01210196
Shire/CS01
Yes
Shire
Shire
Not Provided
Principal Investigator: Christoph Kampmann, Prof. Dr. University of Mainz, Germany
Shire
March 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP