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Alzheimer Disease ×
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  1. 1. Clinical Trial
  2. 2. Routine Documentation
  3. 3. Registry/Cohort Study
  4. 4. Quality Assurance
  5. 5. Data Standard
  6. 6. Patient-Reported Outcome
  7. 7. Medical Specialty
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- 1/31/24 - 5 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: pht005331

pht005332.v1.p1

1 itemgroup 23 items

pht005333.v1.p1

1 itemgroup 3 items

Eligibility

1 itemgroup 3 items

pht005330.v1.p1

1 itemgroup 4 items
- 12/13/22 - 9 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: pht003392
Principal Investigator: Richard A. Gibbs, PhD, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA MeSH: Alzheimer Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000572 *NOTICE OF CHANGE IN LOCATION FOR ALZHEIMER'S DISEASE SEQUENCING PROJECT (ADSP) GENETIC AND PHENOTYPIC DATA:* ADSP whole exome and whole genome sequence data that are shared through dbGaP were mapped to the Genome Reference Consortium human genome GRCh37 (build 37). These data are from the Discovery Phase of the project (described below) and will continue to be available at this site. Please see the ADSP Design page for the complete study description. All data that are mapped to GRCh38 (hg38) are being shared through the NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) Data Sharing Service (DSS). For instructions on how access the ADSP Build 38 data that are shared through NIAGADS DSS, visit the Application Instructions page. *STUDY DESCRIPTION FOR dbGaP BUILD 37 ADSP DATA: *The overarching goals of the Alzheimer's Disease Sequencing Project (ADSP) are to: (1) identify new genomic variants contributing to increased risk of developing Alzheimer's Disease (AD), (2) identify new genomic variants contributing to protection against developing AD, and (3) provide insight as to why individuals with known risk factor variants escape from developing AD. These factors will be studied in multi-ethnic populations in order to identify new pathways for disease prevention. Such a study of human genomic variation and its relationship to health and disease requires examination of a large number of study participants and needs to capture information about common and rare variants (both single nucleotide and copy number) in well phenotyped individuals. Using existing samples from NIH funded and other studies, three NHGRI funded Large Scale Sequencing and Analysis Centers (LSAC) - Broad, Baylor, and Washington University - produced the DNA sequence data. Variant call data are being made available to the scientific community through NIH-approved data repositories. Statistical analysis of the sequence data is anticipated to identify new genetic risk and protective factors. The ADSP will conduct and facilitate analysis of sequence data to extend previous discoveries that may ultimately result in new directions for AD therapeutics. Analysis of ADSP data will be done in two phases. The Discovery Phase analysis (2014-2018) is funded under PAR-12-183. The entire Discovery dataset contains whole-genome sequencing data on 584 subjects from 113 families, and pedigree data for 4000 subjects; whole exome sequencing data on 5096 cases 4965 controls; and whole exome sequence data on an additional 853 (682 Cases [510 Non-Hispanic, 172 Hispanic]), and 171 Hispanic Control subjects from families that are multiply affected with AD. The Replication Phase (2016-2021) analysis will be funded under RFA-AG-16-001 and RFA-AG-16-002 and is expected to include a combination of genotyping and sequencing approaches on at least 30,000 subjects. Targeted sequencing will be done by the LSACs. *GRCh37 Data Releases* - The *first* ADSP data release occurred on November 25, 2013. It included the whole-genome sequencing data in BAM file format on 410 individuals. - The *second* ADSP data release occurred on March 31, 2014, and included the whole-genome sequencing data in BAM file format for an additional 168 individuals. - The *third* ADSP data release occurred on November 03, 2014 and included whole-exome sequencing data in BAM file format for 10,939 individuals. - The *fourth* ADSP data release occurred on February 13, 2015 and included revised ethnic data for subjects with whole-exome sequencing data. - The *fifth* ADSP data release occurred on July 13, 2015 and included whole-genome genotypes and updated phenotypes as well as changes to pedigree structures and sample IDs. - The *sixth* ADSP data release occurred on December 8, 2015, and included whole-exome genotypes and updated phenotypes as well as changes to subject IDs. This *seventh ADSP data release on April 12, 2016* includes: (1) WES and WGS SNV VCF files (2) WES and WGS Indel PLINK files *ADSP Data Available through dbGaP:* table border="1" tr th/th th*ADSP - Whole Genome Sequencing*/th th*ADSP - Whole Exome Sequencing*/th th*Comments*/th /tr tr tdDNA-Seq (BAM)/td tdn=578/td tdn=10913/td tdSequence data available (plus n=38 replications w/out genotype data)/td /tr tr tdConcordant SNV Genotypes (PLINK format)/td tdN/A/td tdn=10913/td tdQC'ed genotypes that are concordant between the Atlas (Baylor's) and GATK (Broad's) calling pipelines (a subset of the consensus genotype set)/td /tr tr tdConsensus Genotypes (PLINK and VCF format)/td tdn=578/td tdn=10913/td tdQC'ed genotypes that are concordant between Atlas and GATK pipelines as well as those that that were called uniquely by Atlas or GATK/td /tr tr tdConcordant Indel Genotypes (PLINK format)/td tdn=578/td tdn=10913/td tdQC'ed genotypes that are concordant between the Atlas and GATK calling pipelines/td /tr tr tdPhenotype Data/td tdn=4735/td tdn=10913/td tdData of n=53 phenotype variables available (plus administrative data), including APOE genotype. WGS phenotypes include data of connecting family members./td /tr /table Please use the release notes provided by dbGaP to obtain detailed information about study release updates. The ADSP data portal provides a customized interface for users to quickly identify and retrieve files by covariates, phenotypes, and data properties such as sequencing facility or coverage. For more information about the ADSP study and the data portal, please visit https://www.niagads.org/adsp/.

pht003394.v5.p4

1 itemgroup 5 items

pht003393.v5.p4

1 itemgroup 11 items

pht003390.v5.p4

1 itemgroup 6 items

Eligibility

1 itemgroup 1 item

pht003391.v5.p4

1 itemgroup 6 items

pht003454.v5.p4

1 itemgroup 11 items
- 11/28/22 - 6 forms, 1 itemgroup, 6 items, 1 language
Itemgroup: pht003167
Principal Investigator: Richard Mayeux, MD, MS, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA MeSH: Alzheimer Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000496 Compared to Caucasians residing in the same community the incidence rate of Alzheimer's disease is approximately twice as high in Caribbean Hispanics. Moreover, Caribbean Hispanics represent a homogenous population with only a few founders. Replication of genetic associations in other ethnic groups provides supporting evidence that a putative gene is involved in the disease pathogenesis, and when different allelic variants within the same genes are associated with disease it can help to localize the pathogenic variant. SORL1 is an example of a candidate gene that was first identified in Hispanics and then confirmed in multiple ethnic and racial groups in a meta-analysis. For this project, we are genotyping 704 individuals in families multiply affected by Alzheimer's disease (166 families). These families were recruited in the United States, Puerto Rico and the Dominican Republic. In addition, we are genotyping 2491 individuals (960 patients with sporadic Alzheimer's disease and 1531 unrelated controls) phenotyped in a similar fashion totaling 3195 individuals. Both cohorts are followed at regular intervals of 18 to 24 months, and potential phenotypes available other than those related to Alzheimer's disease include body mass index, measured blood pressure, neurological history and examinations. More importantly, both studies are funded through 2014 and additional phenotypes could be added in successive waves. We propose a genome wide association (GWA) study of Alzheimer's disease and longitudinal changes in cognition and other age-related neurological and medical phenotypes. The goal will be to identify the chromosomal locations of genes underlying this disease and its related endophenotypes.

pht003168.v1.p1

1 itemgroup 5 items

pht003169.v1.p1

1 itemgroup 34 items

pht003170.v1.p1

1 itemgroup 5 items

Eligibility

1 itemgroup 3 items

pht003166.v1.p1

1 itemgroup 3 items
- 10/12/22 - 5 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Gerard D. Schellenberg, PhD, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA MeSH: Alzheimer Disease,Dementia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000372 The National Institute on Aging (NIA) Alzheimer's Disease Centers (ADCs) cohort includes subjects ascertained and evaluated by the clinical and neuropathology cores of the 29 NIA-funded ADCs. Data collection is coordinated by the National Alzheimer's Coordinating Center (NACC). NACC coordinates collection of phenotype data from the 29 ADCs, cleans all data, coordinates implementation of definitions of AD cases and controls, and coordinates collection of samples. The ADC cohort consists of autopsy-confirmed and clinically-confirmed AD cases, and cognitively normal elders (CNEs) with complete neuropathology data who were older than 60 years at age of death, and living CNEs evaluated using the Uniform dataset (UDS) protocol who were documented to not have mild cognitive impairment (MCI) and were between 60 and 100 years of age at assessment. ADCs sent frozen tissue from autopsied subjects and DNA samples from some autopsied subjects and from living subjects to the National Cell Repository for Alzheimer's Disease (NCRAD). DNA was prepared by NCRAD for genotyping and sent to the genotyping site at Children's Hospital of Philadelphia. ADC samples were genotyped and analyzed in separate batches. [Reprinted from AC Naj et al. Common variants at *MS4A4/MS4A6E*, *CD2AP*, *CD33* and *EPHA1* are associated with late-onset Alzheimer's disease. *Nature Genetics* 43, 436-441 (2011). doi:10.1038/ng.801. PMID: 21460841.]

pht002856.v1.p1

1 itemgroup 5 items

pht002857.v1.p1

1 itemgroup 5 items

pht002858.v1.p1

1 itemgroup 12 items

pht002859.v1.p1

1 itemgroup 4 items
- 10/12/22 - 6 forms, 1 itemgroup, 17 items, 1 language
Itemgroup: pht002319
Principal Investigator: Kathleen S. Hall, PhD, Indiana University School of Medicine, Indianapolis, IN, USA MeSH: Alzheimer Disease,Cognition Disorders,Dementia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000378 In 1991 collaboration between researchers at Indiana University School of Medicine and the University of Ibadan, Ibadan, Nigeria established the Indianapolis-Ibadan Dementia Project. It is a longitudinal, prospective population-based comparative epidemiological study of the prevalence and incidence rates and risk factors of Alzheimer's disease and other age associated dementias. The project compares samples of community-dwelling elderly (age 70 years) African Americans living in Indianapolis to Yoruba living in Ibadan, Nigeria, employing the same research design, methods, and investigators. It initially reported significantly lower prevalence rates of disorders in the Yoruba compared to the African Americans. In subsequent waves of the study (1994-1995, 1997-1998) incidence rates, rates of newly diagnosed cases, were also found to be significantly lower in the Yoruba. In genetic studies, the frequency of the APOE 4 allele was about the same in the two groups. APOE 4 was a significant risk factor for Alzheimer's disease and dementia in the Americans, while no association was found for the Yoruba. The APOE 2 allele appears to be protective in the Americans, but not the Yoruba. A constellation of factors often associated with vascular risk including a history of hypertension, diabetes, and high cholesterol levels is less common in the Yoruba than in the American group. An interaction was observed between cholesterol, APOE genotype and Alzheimer's disease in both study groups. In 2001-2002 survivors of the original cohort were once again evaluated (N~800 in each site) and 2,000 additional individuals age 70 years and older were enrolled in each site. Blood samples were collected from approximately 1,500 study participants in each site for genetic studies and analysis of biochemical risk factors for vascular disease. Subsequent waves of field work were conducted in 2004, 2007, 2009, and 2011. This fieldwork followed the classic two-stage study design. The study design involves an in-home screening interview with the study participant, which includes a cognitive assessment, medical history and current medications, brief neurological examination, height and weight, blood pressure measurement and assessment of social involvement. There is also a screening interview with a close relative of the study participant to assess activities of daily living, personality change, and medical history of the study participant. On the basis of the screening interview a sample of study participants (N~500 in each site) is selected for a full clinical diagnostic dementia work up which includes a neurological test battery, extensive interview with a family member and examination by a clinician. Diagnoses are made in a consensus diagnosis conference using the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Revised Third Edition (DSM-III R) and International Classification of Diseases 10th Revision (ICD-10) for dementia. The criteria of the National Institute for Neurological and Communicative Disease and Stroke-Alzheimer's Disease and Related Disorders Association were used to diagnose possible and probable Alzheimer's disease. The focus of the study is risk factors for dementia and Alzheimer's disease, but also of particular importance is the question of mild cognitive impairment. This refers to the condition of having some decline in cognition but the decline is not sufficient to meet the criteria for dementia. We have studied this over the course of this project. In follow up studies of individuals who have this diagnosis about one third of them are better at follow up, about a third are about the same, and about a third decline more to meet the criteria for dementia. This is a very important issue for researchers because the ultimate goal of the research is to figure out how to identify the individuals who will definitely progress to dementia. If there are clear identifiers, it would be possible to make interventions, while individuals still function well, and possibly prevent the development of dementia altogether or delay the onset significantly. This is crucial because at the moment individuals usually do not enter into the medical care system until the dementia symptoms are quite severe, and the pathological damage to the brain cannot be undone.

pht002320.v1.p1

1 itemgroup 4 items

pht002318.v1.p1

1 itemgroup 13 items

Eligibility

1 itemgroup 2 items

pht002316.v1.p1

1 itemgroup 4 items

pht002317.v1.p1

1 itemgroup 5 items
- 10/12/22 - 6 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Michael A. Province, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Longevity,Aging,Cardiovascular Diseases,Neoplasms,Stroke,Inflammation,Immune System,Diabetes Mellitus,Hypertension,Dyslipidemias,Lipids,Osteoporosis,Pulmonary Function Tests,Kidney Function Tests,Alzheimer Disease,Depression,Personality,Executive Function,Reproductive History https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000397 The Long Life Family Study (LLFS) is an international collaborative study of the genetics and familial components of exceptional survival, longevity, and healthy aging. Families were recruited through elderly probands (generally in their 90s) who self-reported on the survival history of their parents and siblings, and on the basis of this information, families which showed clustering of exceptional survival were recruited. [Specifically, a Family Longevity Selection Score (FLOSS) ≥7 was required. The FLOSS measures the average excess Observed lifespan over that Expected based upon lifetables, while adding a bonus term for still-living individuals. Thus FLOSS is a useful tool for scoring and selecting families for inclusion in a research study of exceptional survival (Sebastiani et al., 2009, PMID: 19910380)]. Probands resided in the catchment areas of four Field Centers (Boston University, Columbia University, University of Pittsburgh, and University of Southern Denmark). Recruited family members were phenotyped through extensive in-home visits by teams of technicians who traveled all over the USA and Denmark. Blood assays were centrally processed at a Laboratory Core (University of Minnesota) and protocols were standardized, monitored and coordinated through a Data Management Coordinating Center (Washington University). We examined and extensively phenotyped in all major domains of healthy aging, 4,953 individuals in 539 families through comprehensive in-home visits. Of these, 4,815 gave dbGaP sharing permission and had sufficient quantity/quality of DNA for GWAS genotyping. This large collection of families, selected on the basis of clustering for exceptional survival, is a unique resource for the study of human longevity and healthy aging. We estimate that less than 1% of the Framingham Heart Study (FHS) families (a roughly random population family sample) would meet the minimal entrance criteria for exceptional survival required in the LLFS (Sebastiani et al., 2009, PMID: 19910380). Thus, the least exceptional LLFS families show more clustering for exceptional longevity than 99% of the FHS families. Although the LLFS pedigrees were selected on the basis of longevity per se in the upper generation (and the generation above that), the children's generation have significantly lower rates of many major diseases and have better healthy aging profiles for many disease phenotypes (Newman et al., 2011, PMID: 21258136). The participants had their first in-person visit between 2006 and 2009. After that visit, they were contacted annually by telephone to update vital status, medical history, and general health. Between 2014 and 2017, willing participants completed a second in-person visit. The second visit followed the same protocols and centralized training as the first visit. During the second visit, a portable carotid ultrasound exam was added. Again, participants were continuously contacted annually for telephone follow-up during the period of the second in-person visit and after that. Annual telephone follow-ups currently ongoing, and plans for a third in-person visit are in progress.

pht002407.v3.p3

1 itemgroup 4 items

pht002408.v3.p3

1 itemgroup 6 items

pht002410.v3.p3

1 itemgroup 106 items

pht003356.v3.p3

1 itemgroup 4 items

pht002409.v3.p3

1 itemgroup 3 items
- 9/20/21 - 1 form, 12 itemgroups, 34 items, 1 language
Itemgroups: Administrative Data, Amyotrophic lateral sclerosis (ALS), Diagnostic criteria and motor subtypes, classical ALS, ALS exclusion criteria, Diagnosis facilitation, ALS occurrence, ALS (not impaired) without cognitive impairment, ALS (cognitive impaired), ALS (behaviourally impaired), ALS (cognitively and behaviourally impaired), ALS‐FTD, ALS (without cognitive impairment, genetic risk for FTD)
DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This document contains the Diagnosis criteria Amyotrophic lateral sclerosis (ALS) form. It has to be filled in if an ALS is diagnosed. Note: If there is a motor neuron disease, fill in the motor neuron disease assessment!

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