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NCT Number: NCT05911932

Investigating Genetic Status in Patients Presenting to Clinic

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.

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Key information

Conditions

Dementia, Frontotemporal Alzheimer Dementia (AD) Alzheimer Disease Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Dementia Frontotemporal Dementia Frontotemporal Lobar Degeneration Lewy Body Dementia (LBD) Lewy Body Disease Mental Disorders Metabolic Diseases Movement Disorders Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases Nutritional and Metabolic Diseases Parkinsonian Disorders Proteostasis Deficiencies Synucleinopathies TDP-43 Proteinopathies Tauopathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Parkwood Institute

London, Ontario, N6C 0A7, Canada

Location status: Recruiting

Location contact

S Jesso, BA

CONTACT

519-646-6000

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Biosample collection.

Other

Blood draw.

Primary outcomes

  1. Blood draw for genetic status or polymorphism result.

    Time frame: 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 outcomes

  1. Demographic information.

    Time frame: 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.

  2. Medical history/Clinical diagnoses.

    Time frame: 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.

  3. Pathological diagnoses.

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Sarah Jesso

CONTACT

[email protected]

519-646-6000

Sponsors and collaborators

Lead sponsor

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

Other

Registry information

Important dates

Study start
2023
Primary completion
2038
Study completion
2043
First posted
Jun 22, 2023
Registry last updated
Mar 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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