Investigating Genetic Status in Patients Presenting to Clinic

NCT05911932 | Recruiting

• 1 other identifier: 121760
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Neurodegenerative disorders

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• Demographic information.

  A one-time visit, taking the participant approximately 20 minutes total for all study procedures.

• Medical history/Clinical diagnoses.

  Typically within 1 month of the clinic visit, taking approximately 5 minutes.

• Pathological diagnoses.

  Typically within 1 month of the clinic visit, taking approximately 5 minutes.

Interventions

Biosample collection. OTHER

Blood draw.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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;

You may qualify if:

• 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.

You may not qualify if:

• Persons declining / unwilling / not able to have a blood draw.

Sponsors & Collaborators

• London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's: lead

Study Sites (1)

Parkwood Institute

London, Ontario, N6C 0A7, Canada

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

To examine genetic and polymorphism biomarkers via a blood sample, where the biosample will be tested for genes thought to be relevant to neurodegenerative diseases, and could be re-tested as newly discovered genetic mutations or polymorphisms are revealed.

MeSH Terms

Conditions

Frontotemporal Dementia; Alzheimer Disease; Lewy Body Disease; Neurodegenerative Diseases

Condition Hierarchy (Ancestors)

Frontotemporal Lobar Degeneration; Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Neurocognitive Disorders; Mental Disorders; Tauopathies; Parkinsonian Disorders; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies

Study Officials

• Elizabeth Finger, MD

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sarah Jesso

CONTACT

519-646-6000; cognitiveneurology@sjhc.london.on.ca

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: June 12, 2023
• First Posted: June 22, 2023
• Study Start: October 20, 2023
• Primary Completion (Estimated): August 1, 2038
• Study Completion (Estimated): August 1, 2043
• Last Updated: March 4, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)