Recruiting

Genetic testing to prevent and treat male breast cancer

The purpose of this study is to identify inheritable mutations among male breast cancer participants by performing genetic testing on their cancer samples, instead of blood samples (such as tumour testing). This testing will allow researchers to identify inheritable mutations when blood samples are not available. This study will evaluate the clinical utility and the feasibility of offering the tumour testing in newly diagnosed male breast cancer patients.

Status
Recruiting
Age
19 and above

Advancing cardiac care-based rapid assessment and treatment of high cholesterol

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.

Status
Recruiting

Creation and Implementation of a BC/Canada Registry for Familial Hypercholesterolemia

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. 

Status
Recruiting

Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study

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.

Status
Recruiting
Principal Investigator
Sandra Sirrs
Body Locations and Systems
Brain
Area
Vancouver
Age
5-85
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