Investigating Genetic Status in Patients Presenting to Clinic
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Biosample collection..
- Who it may be relevant to
- Registry conditions: Dementia, Frontotemporal, Alzheimer Dementia (AD), Lewy Body Dementia (LBD). Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Canada
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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
- Other Biosample collection.
Blood draw.
Primary outcome measures
- 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.]
Secondary outcome measures (3)
- Demographic information. [Time frame: A one-time visit, taking the participant approximately 20 minutes total for all study procedures.]
- Medical history/Clinical diagnoses. [Time frame: Typically within 1 month of the clinic visit, taking approximately 5 minutes.]
- Pathological diagnoses. [Time frame: Typically within 1 month of the clinic visit, taking approximately 5 minutes.]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Canada · 1 center
- Parkwood Institute — London
Identifiers
NCT: NCT05911932 · 121760