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Investigating Genetic Status in Patients Presenting to Clinic

Investigating Genetic Status in Patients Presenting to Clinic

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT05911932
Enrollment
1000
Registered
2023-06-22
Start date
2023-10-20
Completion date
2043-08-31
Last updated
2025-03-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Keywords

Neurodegenerative disorders

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.

Interventions

OTHERBiosample collection.

Blood draw.

Sponsors

London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Lead SponsorOTHER

Study design

Observational model
COHORT
Time perspective
PROSPECTIVE

Eligibility

Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No

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.

Design outcomes

Primary

MeasureTime frameDescription
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

MeasureTime frameDescription
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.

Countries

Canada

Contacts

Primary ContactSarah Jesso
cognitiveneurology@sjhc.london.on.ca519-646-6000

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026