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dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 27/11/2024 - 6 Formulär, 2 Item-grupper, 11 Dataelement, 1 Språk
Item-grupper: IG.elig, IG.elig
Principal Investigator: Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA MeSH: Hypercholesterolemia,Asthma,Arthritis, Rheumatoid,Attention Deficit Disorder with Hyperactivity,Bipolar Disorder,Coronary Disease,Depression,Heart Failure,Inflammatory Bowel Diseases,Multiple Sclerosis,Schizophrenia,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000944 The Partners HealthCare Biobank is a large research data and sample repository working within the framework of Partners Personalized Medicine. It provides researchers access to high quality, consented samples to help foster research, advance understanding of the causes of common diseases, and advance the practice of medicine. The Partners Biobank provides banked samples (plasma, serum and DNA) collected from consented patients. These samples are available for distribution to Partners HealthCare investigators with appropriate approval from the Partners Institutional Review board (IRB). They are linked to clinical data that originates in the Electronic Medical Record (EMR), as well as additional health information collected in a self-reported survey. The Partners Biobank will be genotyping 25,000 subjects with the Illumina Multiethnic Beadchip 1.6 million SNPs with exome and custom content ( 60,000 LoFs). Of the participants genotyped so far, 4929 of 4962 (99.3%) individuals have genotype data that passed the default quality thresholds for the Infinium array (call rate = 0.99). We are submitting the genotype data to dbGaP for 4929 subjects with 12 phenotypes (based on icd9 codes). We will do annual releases until we reach the full 25,000 genotyped subjects.

pht004847.v1.p1

1 Item-grupp 5 Dataelement

pht005288.v1.p1

1 Item-grupp 6 Dataelement

pht004844.v1.p1

1 Item-grupp 2 Dataelement

pht004845.v1.p1

1 Item-grupp 3 Dataelement

pht004846.v1.p1

1 Item-grupp 18 Dataelement

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

- 31/01/2024 - 5 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: 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 Item-grupp 23 Dataelement

pht005333.v1.p1

1 Item-grupp 3 Dataelement

Eligibility

1 Item-grupp 3 Dataelement

pht005330.v1.p1

1 Item-grupp 4 Dataelement

dbGaP phs000490 A Study of the Genetic Causes of Complex Pediatric Disorders - pht002969.v1.p1

- 04/11/2022 - 10 Formulär, 1 Item-grupp, 32 Dataelement, 1 Språk
Item-grupp: pht002969
Principal Investigator: Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA MeSH: Asthma,Attention Deficit Disorder with Hyperactivity,Dermatitis, Atopic,Gastroesophageal Reflux,Lipoproteins, LDL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490 The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with *asthma*, *ADHD*, *atopic dermatitis*, *GERD* (1000 for each), and 1000 individuals on the upper and lower ranges of *Low-Density Lipoprotein* (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls. Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications. Further details of CAG's research programs and capacity are available at: http://www.caglab.org

pht002961.v1.p1

1 Item-grupp 3 Dataelement

pht002963.v1.p1

1 Item-grupp 3 Dataelement

pht002964.v1.p1

1 Item-grupp 21 Dataelement

pht002965.v1.p1

1 Item-grupp 27 Dataelement

pht002966.v1.p1

1 Item-grupp 26 Dataelement

pht002967.v1.p1

1 Item-grupp 28 Dataelement

A Parallel Group Study of Fluticasone Furoate/Vilanterol in Subjects with Asthma - 106837 - Medical Conditions Form

- 28/11/2018 - 1 Formulär, 6 Item-grupper, 14 Dataelement, 1 Språk
Item-grupper: Cardiac Disorders, Endocrine Disorders, Eye Disorders, Vascular Disorders, Metabolism and Nutrition Disorders, Infections and Infestations
Study ID: 106837 Clinical Study ID: HZA106837 Study Title: A Long-Term, Randomized, Double-Blind, Parallel Group Study of Fluticasone Furoate/GW642444 Inhalation Powder Once-Daily and Fluticasone Furoate Inhalation Powder Once-Daily in Subjects with Asthma Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT01086384 Sponsor: GlaxoSmithKline Collaborators: N/A Phase: Phase 3 Study Recruitment Status: Completed Generic Name: fluticasone furoate/vilanterol Trade Name: Relvar Study Indication: Asthma

dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data - Eligibility

- 13/12/2022 - 5 Formulär, 1 Item-grupp, 7 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "*The Gene Partnership*" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

pht002864.v1.p1

1 Item-grupp 4 Dataelement

pht002865.v1.p1

1 Item-grupp 5 Dataelement

pht002866.v1.p1

1 Item-grupp 42 Dataelement

pht002867.v1.p1

1 Item-grupp 4 Dataelement

Eligibility Asthma NCT00557700

- 13/04/2016 - 1 Formulär, 2 Item-grupper, 15 Dataelement, 1 Språk
Item-grupper: Inclusion Criteria, Exclusion Criteria
Study to Investigate the Effect of Inhaled Tiotropium Bromide on Neurokinin-A Induced Bronchoconstriction in Patients With Mild-to-moderate Asthma; ODM derived from: https://clinicaltrials.gov/show/NCT00557700

dbGaP phs001369 Germline hypomorphic CARD11 mutations in severe atopic disease - pht006570.v1.p1

- 21/02/2023 - 6 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: pht006570
Principal Investigator: Joshua D. Milner, MD, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA MeSH: Dermatitis, Atopic,Asthma,Food Hypersensitivity,Skin Diseases, Infectious https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001369 We described five patients from four unrelated families who had severe atopic dermatitis and susceptibility to mild skin viral infections. Some patients also exhibited other allergic symptoms such as asthma and food allergy. We performed targeted sequencing for affected patients A-I of family A and B-I of family B, whole exome sequencing for D-I, D-II.1 and healthy mother D-II.3 of family D, and whole genome sequencing for C-I and healthy mother C-II.2 of family C. We identified three different novel damaging missense mutations of CARD11 (GeneID:84433) in patients A-I (L194P), B-I (R975W), and C-I (E57D). In patients D-I and D-II.1, a dup183_196 (p.K196_V197insMKEERDSYNDELVK) mutation was found in the coil-coil domain of the protein. These mutations act as dominant negatives impeding the scaffolding function of the wild type protein, which leads to downstream NF-kB and mTORC1 signaling defects after TCR stimulation. Sanger sequencing later identified the corresponding CARD11 mutations in the affected family members (C-II.1, D-II.2) that are not included in the dbGaP submission. Hypomorphic CARD11 dominant negative mutants are novel causes of severe atopic disease.

pht006571.v1.p1

1 Item-grupp 5 Dataelement

pht006572.v1.p1

1 Item-grupp 2 Dataelement

pht006573.v1.p1

1 Item-grupp 8 Dataelement

pht006574.v1.p1

1 Item-grupp 5 Dataelement

Eligibility

1 Item-grupp 3 Dataelement

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