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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
Sponsor:
Information provided by (Responsible Party):
Maria Skaalum Petersen, Faroese Hospital System

Study Description
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Brief 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

Condition or disease
Alzheimer Disease Dementia

Detailed 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.

Study Design
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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Other
Time Perspective: Other
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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. Influence of polychlorinated biphenyl exposure on the risk of AD [ Time Frame: At baseline ]
    Polychlorinated biphenyls levels measured in serum

  2. Influence of perfluorinated alkylated substance exposure on the risk of AD [ Time Frame: At baseline ]
    Perfluorinated alkylated substances (PFAS) levels measured in serum

  3. Influence of mercury exposure on the risk of AD [ Time Frame: At baseline ]
    Mercury levels measured in blood

  4. MMSE [ Time Frame: At baseline ]
    Mini Mental State Examination

  5. ACE [ Time Frame: At baseline ]
    Addenbrooke's cognitive examination

  6. NPI-Q [ Time Frame: At baseline ]
    The Neuropsychiatric Inventory

  7. FAQ IADL [ Time Frame: At baseline ]
    Functional Activities Questionnaire / Functional Assessment Questionnaire


Biospecimen Retention:   Samples With DNA
Whole blood, serum, plasma and buffy coat

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
This is a population based study conducted in the Faroe Islands, a small island population with approximately 50.000 inhabitants. Individuals diagnosed with dementia are being recruited from the only Dementia Clinic on the islands. Family members are also recruited. Control subjects are randomly selected from the Faroese Population Registry, matched by sex and age to the cases. Te
Criteria

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)
Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Maria Skaalum Petersen, PhD 00298216695 maria@health.fo

Locations
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Faroe Islands
The Faroses Hospital System Recruiting
Tórshavn, Faroe Islands, 100
Contact: Maria Skaalum Petersen, PhD    00298 216695    maria@health.fo   
Sponsors and Collaborators
Faroese Hospital System
More Information
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Responsible Party: Maria Skaalum Petersen, Associate professor, Faroese Hospital System
ClinicalTrials.gov Identifier: NCT03628404    
Other Study ID Numbers: AD
First Posted: August 14, 2018    Key Record Dates
Last Update Posted: August 10, 2020
Last Verified: August 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Maria Skaalum Petersen, Faroese Hospital System:
Alzheimer disease
Dementia
Faroe Islands
Isolated population
Environmental exposure
Additional relevant MeSH terms:
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Alzheimer Disease
Dementia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
 Tauopathies
Neurodegenerative Diseases
Neurocognitive Disorders
Mental Disorders