Fabry Disease
Conditions
Keywords
Fabry
Brief 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.
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.
Interventions
PROCEDUREMRI
Cardiac MRI after 12 and 24 months.
Sponsors
Shire
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
25 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of fibrotic left ventricular segments at baseline and after 12 and 24 months | 24 months |
Secondary
| Measure | Time frame |
|---|---|
| Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI | 24 months |
Countries
Belgium, Czechia, Denmark, Finland, Germany, Sweden
Outcome results
None listed