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dbGaP phs000961 eMERGE III: Columbia GENIE (Genomic Integration with EHR) - pht005331.v1.p1

- 31/01/24 - 5 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio
ItemGroup: pht005331
Principal Investigator: Chunhua Weng, PhD, Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA MeSH: NA,Renal Insufficiency, Chronic,Alzheimer Disease,Aortic Aneurysm, Abdominal,Asthma,Attention Deficit Disorder with Hyperactivity,Clostridium difficile,Dermatitis, Atopic,Diabetes Mellitus, Type 2,Heart Diseases,Herpes Zoster,Hypothyroidism,Methicillin-Resistant Staphylococcus aureus,Prostatic Hyperplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000961 The Columbia GENIE study contributes and shares phenotype and genotype data for individuals who were treated with our healthcare facilities and consented to share their data with dbGaP for scientific discovery. Some of these individuals have kidney or neurological problems and some are healthy volunteers from the Washington Height patient community. The purpose of this NOMAS study is to obtain information about physical features of the brain, carotid arteries, and heart. Some of our patients are pediatric patients with cardiac conditions. The study sample consists of four patient cohorts: - Northern Manhattan Study (NOMAS), N=1072 - Pediatric Cardiac Genomic Consortium (PCGC), n=374 - Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease (Caribbean Hispanics/AD), n=330 - Alzheimer's Disease Sequencing Project (ADSP, n=44) - Genetics of Chronic Kidney Disease Study, n=1256

pht005332.v1.p1

1 ItemGroup 23 elementi

pht005333.v1.p1

1 ItemGroup 3 elementi

Eligibility

1 ItemGroup 3 elementi

pht005330.v1.p1

1 ItemGroup 4 elementi

dbGaP phs000293 The Familial Intracranial Aneurysm Linkage Study (FIA) - Eligibility

- 12/10/22 - 6 moduli, 1 ItemGroup, 7 elementi, 1 linguaggio
ItemGroup: IG.elig
Principal Investigator: Joseph P. Broderick, MD, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA MeSH: Intracranial Aneurysm,Aortic Aneurysm, Abdominal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000293 Our long-term objective is to identify susceptibility genes that are related to the formation of intracranial aneurysms (IA). Rupture of IAs occurs in 16,000 to 17,000 persons in the U.S. annually and nearly half of affected persons are dead within the first 30 days. An additional 6,000 to 7,000 persons with unruptured IAs are identified each year. Accumulated evidence indicates that a genetic component plays an important role in the development of IAs, but specific loci affecting the risk of IA have not been identified. The primary hypothesis of this study is that there are specific human chromosomal regions that are associated with an increased risk of IAs. Specific Aims of are:- Recruitment of 400 (475) families with multiple individuals who have an IA through 23 (25) referral centers throughout North America, Australia, and New Zealand that represent 35 (40) recruitment sites. - Ascertainment of interviews and blood samples from all affected family members as well as their first-degree relatives. White blood cells from living persons with an IA will be cryopreserved at Coriell Institute for Medical Research for future immortalization of cells lines as indicated. - Identification of unruptured IAs by obtaining MRAs in selected asymptomatic siblings (of affected individuals). - Completion of a 10 cM genome series in persons with IAs as well as the spouses and children of persons with an IA who are deceased. We will perform finer mapping of chromosomal regions with suggestive evidence of linkage in the genome screen. - Performance of a nonparametric (allele sharing) linkage analysis, including relevant environmental factors such as smoking, to identify chromosomal regions linked to IA. Reconstruction of the genotypes of deceased affected family members will be performed. Identification of individuals who are genetically at high risk for the development of IAs would enable targeted and effective screening/prevention/treatment strategies to reduce the substantial mortality and morbidity associated with this devastating type of stroke. Only a multidisciplinary, collaborative effort to identify, accrue, and genotype FIA families will be successful in identifying sufficient high-risk families to characterize the genetic underpinnings of IA.

pht003364.v1.p1

1 ItemGroup 6 elementi

pht003365.v1.p1

1 ItemGroup 3 elementi

pht003366.v1.p1

1 ItemGroup 14 elementi

pht003363.v1.p1

1 ItemGroup 2 elementi

pht003367.v1.p1

1 ItemGroup 3 elementi

dbGaP phs000387 Geisinger eMERGE - Abdominal Aortic Aneurysm Project (AAAP) - Eligibility

- 12/10/22 - 5 moduli, 1 ItemGroup, 2 elementi, 1 linguaggio
ItemGroup: IG.elig
Principal Investigator: David Carey, PhD, Weis Center for Research, Geisinger Clinic, Danville, PA, USA MeSH: Abdominal Aortic Aneurysms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000387 A large research cohort of Geisinger Abdominal Aortic Aneurysm (AAA) patients was created by enrolling and consenting patients of the Geisinger Department of Vascular Surgery. Consented patients provide blood, serum and DNA samples for research and authorize use of data in their medical record for research. They also complete a data questionnaire that asks information about family history of AAA and other vascular diseases, as well as information on known or suspected AAA risk factors, including smoking history, body mass index, hypertension, type 2 diabetes, and atherosclerotic disease. The AAA cases are 78% male, with a mean age of 74 years; 39% have undergone surgical or endovascular repair; more than 85% or current or past smokers; approximately 20% of cases report a positive family history of AAA. Geisinger AAA patients undergo regular imaging studies, typically every 6 months, to monitor the progression of aneurysm expansion. This allows the growth rates of their aneurysm to be calculated. DNA samples from a total of 910 AAA patients were used for whole genome genotyping; these results are included in the dbGaP.

pht002442.v1.p1

1 ItemGroup 5 elementi

pht002443.v1.p1

1 ItemGroup 4 elementi

pht002444.v1.p1

1 ItemGroup 15 elementi

pht002445.v1.p1

1 ItemGroup 4 elementi

Abdominal Aortic Aneurysm (AAA) data elements

- 13/04/21 - 1 modulo, 8 itemgroups, 46 elementi, 2 lingue
Itemgroups: Patient history (AAA), Physical Assessment, Diagnostics, noninvasive, Diagnostics, invasive, Therapeutic Procedures, Patient counseling education, Follow-Up, Outcomes of Open AAA and Endovascular Repair
2012 ACCF / AHA Data Standard Abdominal Aortic Aneurysm (AAA) data elements see http://www.ncbi.nlm.nih.gov/pubmed/22144570

Eligibility NCT00833924 Abdominal Aortic Aneurysms - Eligibility

- 16/04/14 - 1 modulo, 2 itemgroups, 7 elementi, 2 lingue
Itemgroups: Inclusion Criteria, Exclusion Criteria
ODM derived from http://clinicaltrials.gov/show/NCT00833924

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