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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01210196
Recruitment Status : Completed
First Posted : September 28, 2010
Last Update Posted : March 26, 2014
Information provided by (Responsible Party):

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.

Condition or disease Intervention/treatment
Fabry Disease Procedure: MRI

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 Type : Observational
Actual Enrollment : 36 participants
Time Perspective: Prospective
Official Title: Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study
Study Start Date : October 2010
Actual Primary Completion Date : September 2013

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Group/Cohort Intervention/treatment
mild affected Fabry patients Procedure: MRI
Cardiac MRI after 12 and 24 months.
Other Name: MRT (German)

Primary Outcome Measures :
  1. Number of fibrotic left ventricular segments at baseline and after 12 and 24 months [ Time Frame: 24 months ]

Secondary Outcome Measures :
  1. Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI [ Time Frame: 24 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   25 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Male and female patients with a genetically confirmed Fabry disease.

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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01210196

ZNA Middelheim
Antwerp, Belgium, B-2020
Institute of Pathology et de Génétique (IPG)
Gosselies, Belgium, B-6041
Czech Republic
Charles University in Prague and General University Hospital in Prague
Praha, Czech Republic, 12808
National University Hospital, Rigshospitalet
Copenhagen, Denmark, DK-2100
Turku University Hospital
Turku, Finland, 20520
Charité University Medicine Campus Mitte
Berlin, Germany, D-10117
University Medical Center Hamburg-Eppendorf
Hamburg, Germany, D-20246
University of Mainz
Mainz, Germany, 55131
University Hospital of Münster
Münster, Germany, D-48149
University Hospital Würzburg
Würzburg, Germany, D-97080
Uppsala University Hospital
Uppsala, Sweden, 751 85
Sponsors and Collaborators
Principal Investigator: Christoph Kampmann, Prof. Dr. University of Mainz, Germany

Responsible Party: Shire Identifier: NCT01210196     History of Changes
Other Study ID Numbers: Shire/CS01
First Posted: September 28, 2010    Key Record Dates
Last Update Posted: March 26, 2014
Last Verified: March 2014

Keywords provided by Shire:

Additional relevant MeSH terms:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders