Investigating Genetic Status in Patients Presenting to Clinic

Recruiting

• Conditions: Alzheimer Dementia (AD); Lewy Body Dementia (LBD); Dementia, Frontotemporal

• Registration Number: NCT05911932
• Lead Sponsor: London Health Sciences Centre Research Institute and Lawson Research Institute of St. Joseph's

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-06-12
• Study First Submitted QC: 2023-06-12
• Study First Posted: 2023-06-22
• Study Start: 2023-10-20
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-03
• Last Update Posted: 2025-03-04
• Primary Completion: 2038-08
• Study Completion: 2043-08

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
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.

Trial Locations

Locations (1)

Parkwood Institute; 🇨🇦 London, Ontario, Canada