The purpose of this study is to determine if self-collected vaginal swab specimens can be used to detect the mutation status of an individual’s BRCA gene. If proven, this method could offer a simple, accessible alternative to blood-based genetic testing, potentially making population-wide genetic testing for hereditary cancer risk more feasible in B.C.
The purpose of this study to evaluate the effect of venglustat on left ventricular mass index in adult participants with Fabry disease and left ventricular hypertrophy. Participants in this study will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat).
The purpose of this study is to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease. This study includes a sub-study evaluating kidney Gb3 inclusions (and other histologic lesions) in male participants with classic Fabry disease who have been treated for at least two years with lucerastat monotherapy in a prior study.
The purpose of this study is to collect biospecimens (fecal, urine, blood) and clinical data to serve as a resource for future research on Parkinson’s disease and other movement disorders. The careful collection, storage and retrieval of biospecimens and medical information for research projects are critical for improving understanding of healthy development and disease mechanisms and the subsequent development of effective treatments. Biospecimens from this biobank will be made available for ethically-approved studies.
The purpose of this study is to test whether a specific combination of biomarkers discovered during previous studies can help predict how someone experiencing a major depressive episode will respond to treatment. The study will also explore other possible biomarkers that may predict treatment response, which may help in the future development of tests that can guide treatment choice more effectively and more quickly.
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.
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.
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.
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy.