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| ID | Type | Description | Link |
|---|---|---|---|
| 5U24AG056270-07 | U.S. NIH Grant/Contract | View source | |
| 1R01AG064614 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| University of Miami | OTHER |
| National Institute on Aging (NIA) | NIH |
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The aim of this study is to identify genetic factors that contribute to risk and progression of early-onset dementia (loss of memory function before the age of 70 years) across all ethnic groups, including Alzheimer's Disease, mild cognitive impairment and other dementias.
The study population includes individuals with Alzheimer's disease, mild cognitive impairment, other forms of dementia, as well as cognitively healthy individuals with a family history of dementia. Participants include males and females across all racial and ethnic groups.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Mild Cognitive Impairment | Individuals with mild cognitive impairment that began before age 70 |
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| Dementia/Alzheimer's Disease | Individuals with Alzheimer's Disease or other dementia that began before age 70 |
| |
| Cognitively Healthy | Cognitively healthy individuals over the age of 35 years with a family history of dementia. |
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| Early-onset dementia prior to the age of 65. | Individuals diagnosed with early-onset dementia prior to the age of 65. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood draw | Genetic | Blood draw for identification of genetic variants associated with the development of memory problems |
|
| Measure | Description | Time Frame |
|---|---|---|
| Genetic risk variants associated with early-onset dementia | 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. | 2 years |
| Changes in blood biomarkers in early-onset dementia | Blood biomarkers including plasma amyloid beta and tau protein will be assessed in blood and correlated with onset and progression of memory loss and functional impairment | 2 years |
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Inclusion criteria:
Exclusion Criteria:
- Individuals with competing diagnosis such as Huntington's disease, traumatic brain injury, drug or alcohol abuse, or schizophrenia, etc., unless family members of a dementia affected individual
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The study population consists of individuals affected by dementia, mild cognitive impairment, cognitively healthy individuals with a family history of dementia. Ascertainment is across both males and females, and all race-ethnic groups.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Pamela Del Rosario | Contact | 212-304-7284 | pd2727@cumc.columbia.edu |
| Name | Affiliation | Role |
|---|---|---|
| Christiane Reitz, MD, PhD | Columbia University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Columbia University Irving Medical Center | Recruiting | New York | New York | 10032 | United States |
Data from this study will be shared via government required repositories and with our collaborators. Data are coded, with no personally identifiable information included. Data shared include the genomic data (array data, sequence data, APOE genotyping results, etc), phenotype data (case/control status, age of onset, etc), and basic demographic information (sex, race/ethnicity data if available, etc).
The NIH Genomic Data Sharing Policy (GDS Policy) took effect on January 25th, 2015. This necessitates that we send coded data and samples to the National Institute on Aging Genetics of Alzheimer's Disease (NIAGADS)l; in some cases materials derived from participants (blood or DNA) may be stored at the National Cell Repository for Alzheimer's Disease (NCRAD).
We may share deidentified genomic and phenotypic data with collaborators at other sites in order the accomplish the scientific aims of the study. Such research is performed with the approval of the local internal review boards.
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.
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 (https://www.niagads.org/sites/all/public\_files/NIAGADS-DDA.pdf) and Alzheimer's Disease Genomics Sharing Plan (https://www.nia.nih.gov/research/dn/alzheimers-disease-genomics-sharing-plan) for more details.
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| ID | Term |
|---|---|
| D003704 | Dementia |
| D000544 | Alzheimer Disease |
| D060825 | Cognitive Dysfunction |
| D008569 | Memory Disorders |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D019965 | Neurocognitive Disorders |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Approximately 40ml of blood and/or saliva
| Neurocognitive testing | Other | Brief memory test |
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| Medical questionnaire | Other | Collection of medical history |
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| D001523 | Mental Disorders |
| D024801 | Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D003072 | Cognition Disorders |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |