A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease

Inclusion Criteria

Cohort 1:

• The patient has a documented diagnosis of Fabry disease.
• The patient is sufficiently compliant with study activities to participate in this treatment plan, as judged by the Investigator.
• The patient must meet current Canadian guidelines for enzyme replacement therapy for Fabry disease by meeting one of the following criteria:
• Age-adjusted glomerular filtration rate (GFR) 10% which is sustained for 3 months and for which other causes of declining renal function have been excluded by a nephrologist or any 2 of the following:
• Isolated proteinuria ≥500 mg/day/1.73 m2 without other cause
• Nephrogenic diabetes insipidus
• Fanconi syndrome
• Hypertension
• Evidence of cardiac involvement related to Fabry disease including any 2 of the following:
• Left ventricular (LV) wall thickness >12 mm
• Left ventricular hypertrophy (LVH) by electrocardiogram (ECG); Estes ECG score must be >5
• Left ventricular mass index (LVMI) by 2D echocardiogram 20% above normal for age
• Diastolic filling abnormalities by 2D echocardiogram or by other accepted measures of diastolic filling. E/A ration >2.0 and deceleration time 33 mm; in four chamber view >42 mm
• Cardiac conduction and rhythm abnormalities: atrioventricular (AV) block, short PR interval, left branch bundle block (LBBB), ventricular or atrial tachyarrhythmias, sinus bradycardia (in the absence of drugs with negative chronotropic activity)
• Delayed posterolateral left ventricular wall late enhancement on MRI as evidence of advanced cardiac disease with fibrosis
• Evidence of neurological involvement related to Fabry disease including 1 of the following:
• Stroke or transient ischemic attack (TIA) prior to the age of 55 documented by a neurologist
• Acute onset unilateral hearing loss
• Acut monocular visual loss without other cause
• Chronic, intractable diarrhea and/or abdominal pain/cramps, refractory to standard management for at least 6 months.
• Chronic, intractable neuropathic pain, refractory to analgesics and standard pain management for at least 6 months.

Cohort 2:

• Patient must have participated in Study REP001a.

Exclusion Criteria

• The patient has experienced an anaphylactic or anaphylactoid reaction or other infusion-related reaction which, in the opinion of the Investigator, precludes further treatment with agalsidase alfa or may interfere with the interpretation of the study.
• The patient is otherwise unsuitable for the study, in the opinion of the Investigator.
• The patient is enrolled in another clinical study, other than the Canadian Fabry Disease Initiative (CFDI).