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
  Purpose

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 Intervention
Fabry Disease
Procedure: MRI

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study

Resource links provided by NLM:


Further study details as provided by Shire:

Primary Outcome Measures:
  • Number of fibrotic left ventricular segments at baseline and after 12 and 24 months [ Time Frame: 24 months ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI [ Time Frame: 24 months ] [ Designated as safety issue: No ]

Enrollment: 36
Study Start Date: October 2010
Primary Completion Date: September 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
mild affected Fabry patients Procedure: MRI
Cardiac MRI after 12 and 24 months.
Other Name: MRT (German)

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.

  Eligibility

Ages Eligible for Study:   25 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Male and female patients with a genetically confirmed Fabry disease.

Criteria

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)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01210196

Locations
Belgium
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
Denmark
National University Hospital, Rigshospitalet
Copenhagen, Denmark, DK-2100
Finland
Turku University Hospital
Turku, Finland, 20520
Germany
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
Sweden
Uppsala University Hospital
Uppsala, Sweden, 751 85
Sponsors and Collaborators
Shire
Investigators
Principal Investigator: Christoph Kampmann, Prof. Dr. University of Mainz, Germany
  More Information

No publications provided

Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT01210196     History of Changes
Other Study ID Numbers: Shire/CS01
Study First Received: September 25, 2010
Last Updated: March 25, 2014
Health Authority: Germany: Ethics Commission

Keywords provided by Shire:
Fabry

Additional relevant MeSH terms:
Fabry Disease
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on October 19, 2014