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  3. Genetics

Genetics

Recruiting

Collecting data for the Pacific Parkinson’s Research Centre Biobank

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.

Status
Recruiting
Principal Investigator
Silke Appel-Cresswell
Body Locations and Systems
Blood, Heart and Circulation
Brain and Nerves
Parkinson's Disease
Digestive System
Immune System
Kidneys and Urinary System
Mouth and Teeth
Age
19 and above

Predicting treatment outcomes for major depression

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.

Status
Recruiting
Principal Investigator
Raymond Lam
Body Locations and Systems
Brain and Nerves
Age
18-60

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
Principal Investigator
Liam Brunham
Body Locations and Systems
Blood, Heart and Circulation
Area
Vancouver
Age
18-60

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
Principal Investigator
Liam Brunham
Body Locations and Systems
Coronary Artery Disease
Area
Vancouver

A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)

This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. 

Status
Recruiting
Principal Investigator
Anna Lehman
Body Locations and Systems
Brain and Nerves
Area
Vancouver
Age
16-65 years

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

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

The purpose of this study is to observe the safety of agalsidase alfa in Canadian patients with Fabry disease.

Status
Recruiting
Principal Investigator
Sandra Sirrs
Area
Vancouver
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