Defining the Genetic Etiology of Alzheimer's Disease in the Faroe Islands
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|ClinicalTrials.gov Identifier: NCT03628404|
Recruitment Status : Recruiting
First Posted : August 14, 2018
Last Update Posted : August 10, 2020
The investigators established the Faroese Alzheimer's Cohort with the aim to unravel genetic and environmental factors that influence the risk and/or susceptibility of Alzheimers disease (AD). It is believed the Faroese population represents a unique opportunity due to its characteristics as a geographic, environmental and genetic isolate with a homogeneous genetic background and founder effects. It has an 'engaged' population with superbly detailed genealogy going 400 years back, unfettered patient access to health care, traditionally high participation rates in research and low probability of losing subjects to follow-up, and presents a unique opportunity to more readily identify genetic and environmental factors involved in AD.
The specific aims of this project are:
- Enrolment of patients with AD, incl.1st degree family members of selected familial patients and age and gender matched control subjects.
- Detailed genealogical investigation of patients with Alzheimer's disease
- Identify genes influencing risk and/or susceptibility of AD in the Faroese population
|Condition or disease|
|Alzheimer Disease Dementia|
The aim of the study is to unravel genetic and environmental factors that influence the risk and/or susceptibility of AD. Thus, subjects with AD and family members when there is a strong history of AD are being recruited. Data collection includes a blood sample, clinical phenotype data from hospital records, standardized assessment scales (e.g. Geriatric Depression Scale (GDS), Neuropsychiatric Inventory Questionnaire (NPI-Q), Functional Activities Questionnaire (FAQ-IADL), tests of mental function (Mini Mental State Examination (MMSE) and Addenbrooke's Cognitive Examination (ACE)) and family and lifestyle/environmental questionnaire. Furthermore are control subjects being recruited where data includes a blood sample, MMSE and a lifestyle/environmental questionnaire.
Initial genetic analyses will focus on known genetic risk factors for AD by looking at the most highly associated single nucleotide polymorphisms in loci harboring e.g. apolipoprotein E (APOE)/Translocase Of Outer Mitochondrial Membrane 40 (TOMM40), MAPT, Phosphatidylinositol Binding Clathrin Assembly Protein (PICALM). Subsequent analyses will focus on genome-wide array genotyping of ~ 1.8 million markers, e.g. to accommodate the population structure. Finally, patients with a family history of AD who cannot be explained by the before mentioned analysis will be subject to exome sequencing. Exposure analyses will focus on persistant organic pollutants, e.g. polychlorinated biphenyls (PCBs), perfluorinated alkylated substances (PFAS) and also mercury.
The investigators believe the Faroese population presents a unique opportunity to more readily identify genetic and environmental factors involved in AD due to its characteristics as a geographic, environmental and genetic isolate with a homogeneous genetic background.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Defining the Genetic Etiology of Alzheimer's Disease in the Faroe Islands|
|Actual Study Start Date :||September 1, 2015|
|Estimated Primary Completion Date :||January 1, 2025|
|Estimated Study Completion Date :||January 1, 2025|
- Sequenom iPLEX genotyping and exome sequencing to identify and characterize genetic contributions to etiology of Alzheimer disease and other dementias [ Time Frame: At baseline ]Genetic cause of disease
- Influence of polychlorinated biphenyl exposure on the risk of AD [ Time Frame: At baseline ]Polychlorinated biphenyls levels measured in serum
- Influence of perfluorinated alkylated substance exposure on the risk of AD [ Time Frame: At baseline ]Perfluorinated alkylated substances (PFAS) levels measured in serum
- Influence of mercury exposure on the risk of AD [ Time Frame: At baseline ]Mercury levels measured in blood
- MMSE [ Time Frame: At baseline ]Mini Mental State Examination
- ACE [ Time Frame: At baseline ]Addenbrooke's cognitive examination
- NPI-Q [ Time Frame: At baseline ]The Neuropsychiatric Inventory
- FAQ IADL [ Time Frame: At baseline ]Functional Activities Questionnaire / Functional Assessment Questionnaire
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03628404
|Contact: Maria Skaalum Petersen, PhDemail@example.com|
|The Faroses Hospital System||Recruiting|
|Tórshavn, Faroe Islands, 100|
|Contact: Maria Skaalum Petersen, PhD 00298 216695 firstname.lastname@example.org|