The purpose of this study is to understand the ability of genetic testing to identify familial hypercholesterolemia among patients with acute cardiac event in hospital settings and to investigate the impact of genetic diagnosis on physician behaviour, medication use and decreasing cholesterol to an acceptable level.
Familial hypercholesterolemia (FH) is the most frequent genetic lipoprotein disorder associated with premature coronary artery disease. The goal of this initiative is to create a registry of subjects with FH across Canada. The registry will help clinicians and researchers to determine the burden of disease and the long-term effects of treatment.
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy.
CFDI STUDY with ENZYME REPLACEMENT THERAPY (ERT)
Fabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency causes the small blood vessels to accumulate a substance called glycolipid. Without sufficient levels of the enzyme, alpha-galactosidase A, persons with Fabry Disease develop severe neuropathic pain, kidney disease, heart disease, stroke and/or premature death; often before the age of 60.
The purpose of this study is to observe the safety of agalsidase alfa in Canadian patients with Fabry disease.