Defining the Genetic Etiology of Alzheimer's Disease in the Faroe Islands

Alzheimer Disease Clinical Trial

Official title:

Defining the Genetic Etiology of Alzheimer's Disease in the Faroe Islands

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03628404
• Other study ID #: AD
• Status: Recruiting
• Start date: September 1, 2015
• Est. completion date: January 1, 2025

Study information

• Verified date: March 2022
• Source: Faroese Hospital System
• Contact: Maria Skaalum Petersen, PhD
• Phone: 00298216695
• Email: maria[@]health.fo
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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:

1. Enrolment of patients with AD, incl.1st degree family members of selected familial patients and age and gender matched control subjects.

2. Detailed genealogical investigation of patients with Alzheimer's disease

3. Identify genes influencing risk and/or susceptibility of AD in the Faroese population

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: January 1, 2025
• Est. primary completion date: January 1, 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• diagnosis of dementia (cases)

• Age and gender matched to cases (controls)

• Close relatives to an individual with dementia (family members)

Exclusion Criteria:

• No exclusion criteria (cases and family members)

• Sign of dementia assessed by MMSE (controls)

Related Conditions & MeSH terms

• Alzheimer Disease
• Dementia

Locations

Country	Name	City	State
Faroe Islands	The Faroses Hospital System	Tórshavn

Sponsors (1)

Lead Sponsor	Collaborator
Faroese Hospital System

Country where clinical trial is conducted

Faroe Islands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Sequenom iPLEX genotyping and exome sequencing to identify and characterize genetic contributions to etiology of Alzheimer disease and other dementias	Genetic cause of disease	At baseline
Secondary	Influence of polychlorinated biphenyl exposure on the risk of AD	Polychlorinated biphenyls levels measured in serum	At baseline
Secondary	Influence of perfluorinated alkylated substance exposure on the risk of AD	Perfluorinated alkylated substances (PFAS) levels measured in serum	At baseline
Secondary	Influence of mercury exposure on the risk of AD	Mercury levels measured in blood	At baseline
Secondary	MMSE	Mini Mental State Examination	At baseline
Secondary	ACE	Addenbrooke's cognitive examination	At baseline
Secondary	NPI-Q	The Neuropsychiatric Inventory	At baseline
Secondary	FAQ IADL	Functional Activities Questionnaire / Functional Assessment Questionnaire	At baseline