Sophisticated Assessment of Disease Burden in Patients With Fabry Disease

Fabry Disease Clinical Trial

— SOPHIA  

Official title:

Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01210196
• Other study ID #: Shire/CS01
• Status: Completed
• Start date: October 31, 2010
• Est. completion date: September 30, 2013

Study information

• Verified date: May 2021
• Source: Takeda
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 36
• Est. completion date: September 30, 2013
• Est. primary completion date: September 30, 2013
• Accepts healthy volunteers: No
• Gender: All
• Age group: 25 Years and older

Eligibility

Inclusion Criteria:

1. Women: A confirmed exonic mutation within the a-Galactosidase gene Men: A confirmed exonic mutation within the a-Galactosidas gene and/or reduced a- 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)

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Procedure:
• MRI
Cardiac MRI after 12 and 24 months.

Locations

Country	Name	City	State
Belgium	ZNA Middelheim	Antwerp
Belgium	Institute of Pathology et de Génétique (IPG)	Gosselies
Czechia	Charles University in Prague and General University Hospital in Prague	Praha
Denmark	National University Hospital, Rigshospitalet	Copenhagen
Finland	Turku University Hospital	Turku
Germany	Charité University Medicine Campus Mitte	Berlin
Germany	University Medical Center Hamburg-Eppendorf	Hamburg
Germany	University of Mainz	Mainz
Germany	University Hospital of Münster	Münster
Germany	University Hospital Würzburg	Würzburg
Sweden	Uppsala University Hospital	Uppsala

Sponsors (1)

Lead Sponsor	Collaborator
Shire

Countries where clinical trial is conducted

Belgium,  Czechia,  Denmark,  Finland,  Germany,  Sweden, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of fibrotic left ventricular segments at baseline and after 12 and 24 months		24 months
Secondary	Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI		24 months