Investigating Genetic Status in Patients Presenting to Clinic
Study Details
Study Description
Brief Summary
The causes of neurodegenerative dementias such as Frontotemporal Dementia, Lewy Body Disease and Alzheimer's disease are still largely unknown. While the contribution of some genetic mutations and polymorphisms is associated with autosomal dominant patterns of inheritance of these dementias, in many cases, the specific causative mutation in these families is not yet identified. Further, in many patients, polygenic risk is thought to give rise to pathophysiologic changes, but which specific genes affect risk are largely yet unknown. By examining genotypes in patients that present to our Cognitive Neurology and Alzheimer's Research Clinic with suspected or confirmed neurodegenerative dementia, or have a history of a familial dementia, we aim to help identify and characterize genetic mutations or polymorphisms that give rise to neurodegenerative diseases.
Condition or Disease | Intervention/Treatment | Phase |
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Study Design
Outcome Measures
Primary Outcome Measures
- Blood draw for genetic status or polymorphism result. [A one-time visit, taking the participant approximately 20 minutes total for all study procedures.]
The blood draw is taken at the time of the clinic visit. Up to 30ml will be collected by standard venipuncture.
Secondary Outcome Measures
- Demographic information. [A one-time visit, taking the participant approximately 20 minutes total for all study procedures.]
Demographic information will be collected at the time of the clinic visit.
- Medical history/Clinical diagnoses. [Typically within 1 month of the clinic visit, taking approximately 5 minutes.]
Will be obtained via chart review when available. This information is collected already as part of the patient's standard care.
- Pathological diagnoses. [Typically within 1 month of the clinic visit, taking approximately 5 minutes.]
Will be obtained via chart review when available. This information is collected already as part of the patient's standard care.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions);
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Biological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic;
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Age 18+ years old;
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Consenting to a blood draw.
Exclusion Criteria:
• Persons declining / unwilling / not able to have a blood draw.
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Parkwood Institute | London | Ontario | Canada | N6C 0A7 |
Sponsors and Collaborators
- Lawson Health Research Institute
Investigators
- Principal Investigator: Elizabeth Finger, MD, Lawson Health Research Institute
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 121760