Investigating Genetic Status in Patients Presenting to Clinic

Sponsor

Lawson Health Research Institute (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05911932

Collaborator

(none)

1,000

Enrollment

Location

240

Anticipated Duration (Months)

4.2

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Dementia, Frontotemporal Alzheimer Dementia (AD) Lewy Body Dementia (LBD)	Other: Biosample collection.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Investigating Genetic Status in Patients Presenting to Clinic

Anticipated Study Start Date :

Aug 1, 2023

Anticipated Primary Completion Date :

Aug 1, 2038

Anticipated Study Completion Date :

Aug 1, 2043

Outcome Measures

Primary Outcome Measures

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

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.