Genetic Studies in Familial Dementia

NCT04680013 | Completed

• 4 other identifiers: 20070307RF1AG054080RF1AG054074U01AG052410
• Study Type: observational
• Target: 4,884
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to identify genetic factors that contribute to or cause dementia (loss of memory) and related disorders across all ages and ethnic groups. This includes a number of neurological diseases such as early and late-onset Alzheimer disease, mild cognitive impairment, and other dementias.

Conditions

Dementia of Alzheimer Type; Alzheimer Disease, Late Onset; Alzheimer Disease, Early Onset; Mild Cognitive Impairment; Dementia

Keywords

Memory loss

Outcome Measures

Primary Outcomes (1)

• Correlation between genetic factors and Alzheimer disease, dementia, and related phenotypes.

  Genetic factors will be measured through genome-wide genotyping arrays and/or whole-genome sequencing, and then correlated with Alzheimer disease and related phenotypes, such as cognitive impairment, functional impairment, and relevant biomarkers. .

  5 years

Study Arms (3)

Cognitive Control

Participants in this group are cognitively intact.

Mild Cognitive Impairment

Participants in this group have mild cognitive impairment.

Dementia Group

Participants in this group have dementia.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of older individuals affected by dementia, mild cognitive impairment, cognitive controls, or their family members. Ascertainment is across both males and females, and all race-ethnic groups.

You may qualify if:

• years and older
• Patients diagnosed with dementia, their family members and unrelated healthy controls without dementia.

You may not qualify if:

• \. Individuals with competing diagnosis such as: Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration, Multiple system atrophy, Corticobasal degeneration, Progressive Supranuclear Palsy, Huntington's disease, traumatic brain injury, drug or alcohol abuse, or schizophrenia, etc. (unless family members of a dementia affected individual).

Sponsors & Collaborators

• University of Miami: lead
• Case Western Reserve University: collaborator
• Columbia University: collaborator
• Wake Forest University: collaborator
• National Institute on Aging (NIA): collaborator

Study Sites (1)

University of Miami

Miami, Florida, 33136, United States

Location

Related Links

• NIA Genomics of Alzheimer Disease Storage site

Biospecimen

Approximately 40 ml of whole blood

MeSH Terms

Conditions

Alzheimer Disease; Cognitive Dysfunction; Dementia; Memory Disorders

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Tauopathies; Neurodegenerative Diseases; Neurocognitive Disorders; Mental Disorders; Cognition Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Margaret Pericak-Vance, PhD

  University of Miami

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 17, 2020
• First Posted: December 22, 2020
• Study Start: June 1, 2007
• Primary Completion: October 29, 2024
• Study Completion: October 29, 2024
• Last Updated: March 3, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: This study adheres to the NIA Alzheimer Disease Genomics Data Sharing Plan (https://www.nia.nih.gov/research/dn/alzheimers-disease-genomics-sharing-plan). As such, genomic data will be deposited in NIH/NIA data repositories (www.niagads.org). For genomic data, this typically happens within a year of data generation, or upon publication in scientific journals (whichever is sooner). Basic phenotypic data (affection status, age of onset, sex, family structure if applicable, etc) are deposited with the genomic data. More detailed phenotypic data (cognitive data, biomarker, etc) will be made available upon publication. Data dictionaries for primary data (genomic data and basic phenotypic data) will be available with the deposition of data into the NIH/NIA data repositories (www.niagads.org). Additional supporting documentation (analysis plans, study protocols, etc) is typically described in detail upon publication of results in peer reviewed literature.
• Access Criteria: This study adheres to the NIA Alzheimer disease Genomics Data Sharing Plan (https://www.nia.nih.gov/research/dn/alzheimers-disease-genomics-sharing-plan). As part of this plan data distribution agreements are required before recipients receive any data from this study. The primary requirements for the DDA include language ensuring that (1) data are not transferred to others beyond the initial recipient, (2) no attempt will be made to identify participants, (3) any results or data generated as part of the study will be shared back to NIA/NIAGADS. See the NIA Data Distribution Agreement for more details (https://www.niagads.org/sites/all/public\ files/NIAGADS-DDA.pdf).

Locations

US (1)