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

Shire

Status: Completed

Conditions: Fabry Disease

Treatments: Procedure: MRI

Study type: Observational

Funder types: Industry

Identifiers

NCT01210196

Shire/CS01

Details and patient eligibility

About

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.

Full 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.

Enrollment: 36 patients

Sex: All

Ages: 25+ years old

Volunteers: No Healthy Volunteers

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)

Trial design

36 participants in 1 patient group

mild affected Fabry patients

Treatment:

Procedure: MRI