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

June 1, 2021 updated by: Shire

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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

Enrollment (Actual)

36

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

25 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Male and female patients with a genetically confirmed Fabry disease.

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months
Time Frame: 24 months
24 months

Secondary Outcome Measures

Outcome Measure
Time Frame
Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI
Time Frame: 24 months
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Shire

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 31, 2010

Primary Completion (Actual)

September 30, 2013

Study Completion (Actual)

September 30, 2013

Study Registration Dates

First Submitted

September 25, 2010

First Submitted That Met QC Criteria

September 27, 2010

First Posted (Estimate)

September 28, 2010

Study Record Updates

Last Update Posted (Actual)

June 3, 2021

Last Update Submitted That Met QC Criteria

June 1, 2021

Last Verified

May 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Shire/CS01

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Fabry Disease

Clinical Trials on MRI

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Djibouti

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe