Investigating Genetic Status in Patients Presenting to Clinic

Study Overview
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Brief Summary
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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.

Official Title
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Investigating Genetic Status in Patients Presenting to Clinic

Conditions
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Dementia, Frontotemporal, Alzheimer Dementia (AD), Lewy Body Dementia (LBD)

Intervention / Treatment
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* Other: Biosample collection.


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions); Biological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic; Age 18+ years old; Consenting to a blood draw. Exclusion Criteria: • Persons declining / unwilling / not able to have a blood draw.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Biosample collection.|Blood draw.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Blood draw for genetic status or polymorphism result. | The blood draw is taken at the time of the clinic visit. Up to 30ml will be collected by standard venipuncture. | A one-time visit, taking the participant approximately 20 minutes total for all study procedures. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Demographic information. | Demographic information will be collected at the time of the clinic visit. | A one-time visit, taking the participant approximately 20 minutes total for all study procedures. | 
| Medical history/Clinical diagnoses. | Will be obtained via chart review when available. This information is collected already as part of the patient's standard care. | Typically within 1 month of the clinic visit, taking approximately 5 minutes. | 
| Pathological diagnoses. | Will be obtained via chart review when available. This information is collected already as part of the patient's standard care. | Typically within 1 month of the clinic visit, taking approximately 5 minutes. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Neurodegenerative disorders