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

This study is currently recruiting participants.
Verified June 2012 by Shire Human Genetic Therapies, Inc.
Sponsor:
Information provided by (Responsible Party):
Shire Human Genetic Therapies, Inc.
ClinicalTrials.gov Identifier:
NCT01210196
First received: September 25, 2010
Last updated: June 6, 2012
Last verified: June 2012
History of Changes
  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:

U.S. FDA Resources

Further study details as provided by Shire Human Genetic Therapies, Inc.:

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 ]

Estimated Enrollment: 60
Study Start Date: October 2010
Estimated Study Completion Date: August 2013
Estimated Primary Completion Date: May 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 alpha galactosidases gene Men: A confirmed exonic mutation within the alpha galactosidases gene and/or reduced galactosidases activity
  2. Female patients older than 30 years and male patients older that 25 years
  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 other 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)
  4. 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
  5. 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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01210196

Contacts
Contact: Martina Kralewski, Dr. 0049(0)152 ext 08632377 mkralewski@shire.com

Locations
Germany
University of Mainz Recruiting
Mainz, Germany, 55131
Contact: Christoph Kampmann, Prof. Dr.     0049(0)6131 ext 172783     kampmann@mail.uni-mainz.de    
Principal Investigator: Christpoh Kampmann, Prof. Dr.            
Sponsors and Collaborators
Shire Human Genetic Therapies, Inc.
Investigators
Principal Investigator: Christoph Kampmann, Prof. Dr. University of Mainz, Germany
  More Information

No publications provided

Responsible Party: Shire Human Genetic Therapies, Inc.
ClinicalTrials.gov Identifier: NCT01210196     History of Changes
Other Study ID Numbers: Shire/CS01
Study First Received: September 25, 2010
Last Updated: June 6, 2012
Health Authority: Germany: Ethics Commission

Keywords provided by Shire Human Genetic Therapies, Inc.:
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
 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 May 16, 2013