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A Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy, Safety, and Tolerability of CAT-354 - Eligibility

- 2021-09-20 - 1 Formulär, 2 Item-grupper, 27 Dataelement, 2 Språk
Item-grupper: Inclusion Criteria, Exclusion Criteria
ODM derived from http://clinicaltrials.gov/show/NCT00640016

dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 2024-11-27 - 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 phs000988 NHLBI TOPMed: The Genetic Epidemiology of Asthma in Costa Rica - Eligibility

- 2024-02-08 - 6 Formulär, 1 Item-grupp, 21 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Scott T. Weiss, MD, MS, Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA MeSH: Asthma,Immunoglobulin E, Basic Level of, in Serum,Body Mass Index,Body Weight,Body Height https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000988 *This administrative supplement to the project, "The Genetic Epidemiology of Asthma in Costa Rica" (R37 HL066289) is in response to NOT-HL-14-029 to perform whole genome sequencing (WGS) on existing NHLBI populations. We focus on asthma because of its public health significance.* Asthma affects 26 million U.S. children and adults, remains a major cause of morbidity (one-half million hospitalizations a year) and is the most common cause of school and work days lost. Asthma-related costs are estimated to be over $12.7 billion annually. The Asthma Probands for both the extended pedigrees and the trios utilized in this study were selected on the basis of a physician diagnosis of asthma; a history of recurrent asthma attacks or at least 2 respiratory symptoms; and either airway hyperresponsiveness to methacholine or significant response to bronchodilator (Albuterol) administration. These criteria are identical to the criteria used in the Childhood Asthma Management Program (CAMP). *The three primary goals of this project are to: (1) identify common and rare genetic variants that determine asthma and its associated phenotypes (height, weight, IgE level, lung function, bronchodilator response, steroid treatment response) through whole genome sequencing (WGS); (2) perform novel family based association analysis of our WGS data to identify novel genes for asthma; and (3) integrate epigenomic and transcriptomic data with our WGS data and determine the epistatic interactions present using systems genomics approaches.* Identification of the molecular determinants of asthma remains an important priority in translational science. Genome-wide association studies (GWAS) have been successful in this regard, identifying at least 10 novel susceptibility genes for asthma. However, as with most complex traits, the variants identified by GWAS explain only a fraction of the estimated heritability of this disorder. *Herein, we propose a novel family-based study design and state-of-the-art genome sequencing techniques to map a set of sequence variants for asthma and its associated phenotypes and assess the interrelationships of the identified genes and variants using systems genomics methods.* We have assembled a team of investigators highly-skilled and expert in whole genome sequencing (Drs. Michael Cho and Benjamin Raby), genetic association analysis (Drs. Scott T. Weiss, Jessica Lasky-Su and Christoph Lange), integrative genomics (Drs. Raby, Kelan Tantisira, Augusto Litonjua and Dawn DeMeo), and systems genomics (Drs. Weiss, Amitabh Sharma, Lange and Raby) to address this important problem with both a novel study design and data set.

pht005245.v5.p1

1 Item-grupp 3 Dataelement

pht005246.v4.p1

1 Item-grupp 6 Dataelement

pht005247.v5.p1

1 Item-grupp 2 Dataelement

pht005248.v5.p1

1 Item-grupp 14 Dataelement

pht005249.v5.p1

1 Item-grupp 9 Dataelement

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

- 2024-01-31 - 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 phs001009 Determinants of Asthma Following RSV Bronchiolitis in Early Life - Eligibility

- 2023-11-06 - 6 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Mario Castro, MD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Asthma,Bronchiolitis, Viral,Respiratory Syncytial Virus, Human https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001009 The goal of the RSV Bronchiolitis in Early Life (RBEL) study is to determine how specific genetic, biologic, and immunologic characteristics interact to predispose individuals to develop asthma. Participants were carefully recruited by selecting a prospective cohort of 206 infants with severe respiratory syncytial virus (RSV) bronchiolitis who were at substantial risk of developing asthma.

pht005349.v1.p1

1 Item-grupp 4 Dataelement

pht005350.v1.p1

1 Item-grupp 6 Dataelement

pht005351.v1.p1

1 Item-grupp 5 Dataelement

pht005352.v1.p1

1 Item-grupp 8 Dataelement

pht005353.v1.p1

1 Item-grupp 5 Dataelement

dbGaP phs001123 Consortium on Asthma among African-ancestry Populations in the Americas - Eligibility

- 2023-06-19 - 6 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Kathleen C. Barnes, PhD, University of Colorado, Denver, CO, USA MeSH: Asthma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001123 Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. Advances in genetic and genomic technologies have revolutionized gene discovery for several complex diseases, but going to the next step in gene discovery for asthma among populations of African descent requires considering unique characteristics of this ethnic group, including adequate sample sizes and population stratification due to (European and African) admixture. Thus far, coverage of common genetic markers both in public databases and commercially available SNP chips has been inadequate to detect and measure genetic associations among African admixed populations. The aim of this study was therefore to catalog genetic diversity in populations of African descent, especially those whose ancestry reflects the African Diaspora in the Americas.

pht006059.v2.p1

1 Item-grupp 2 Dataelement

pht006060.v2.p1

1 Item-grupp 2 Dataelement

pht006061.v2.p1

1 Item-grupp 8 Dataelement

pht006062.v2.p1

1 Item-grupp 5 Dataelement

pht009042.v1.p1

1 Item-grupp 5 Dataelement

dbGaP phs001143 NHLBI TOPMed: The Genetics and Epidemiology of Asthma in Barbados - pht005902.v1.p1

- 2023-06-14 - 6 Formulär, 1 Item-grupp, 2 Dataelement, 1 Språk
Item-grupp: pht005902
Principal Investigator: Kathleen Barnes, PhD, University of Colorado, Denver, CO, USA MeSH: Asthma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001143 Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. The baseline prevalence of asthma in Barbados is high (~20%), and from admixture analyses, we have determined that the proportion of African ancestry among Barbadian founders is similar to U.S. African Americans, rendering this a unique population to disentangle the genetic basis for asthma disparities among African ancestry populations in general. We therefore performed whole genome sequencing on 1,100 individuals from the Barbados Genetics of Asthma Study (BAGS), in order to generate additional discovery of rare and structural variants that may control risk to asthma.

pht005903.v1.p1

1 Item-grupp 6 Dataelement

pht005904.v2.p1

1 Item-grupp 2 Dataelement

pht005905.v3.p1

1 Item-grupp 36 Dataelement

pht005906.v1.p1

1 Item-grupp 8 Dataelement

Eligibility

1 Item-grupp 1 Dataelement

dbGaP phs001156 The EVE Asthma Genetics Consortium: Building Upon GWAS - pht007048.v1.p1

- 2023-06-05 - 5 Formulär, 1 Item-grupp, 2 Dataelement, 1 Språk
Item-grupp: pht007048
Principal Investigator: Carole Ober, PhD, University of Chicago, Chicago, IL, USA MeSH: Asthma,Serum IgE https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001156 The EVE Asthma Genetics Consortium comprises U.S. investigators who have conducted genome-wide association studies (GWAS) of asthma; the main objective is to combine results of individual studies to increase the overall power to identify loci for asthma and asthma-associated traits. The consortium includes investigators at 9 U.S. institutions with GWAS results for 10,000 individuals representing European American, African American, African Caribbean, U.S. Hispanic, and Mexican populations and includes the following studies:- The Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE) - The Genetic Research on Asthma in the African Diaspora (GRAAD) Study - The Genetics of Asthma in Latino Americans (GALA 1) Study - The Childhood Asthma Management Program (CAMP) - The Childhood Asthma Research and Education (CARE) Network - The Children's Health Study (CHS) - Mexico City Childhood Asthma Study (MCCAS) - The Chicago Asthma Genetics Study (CAG)* liThe National Heart, Lung, and Blood Institute Collaborative Studies of the Genetics of Asthma (CSGA)*/li liThe Severe Asthma Research Program (SARP)*/li (*CAG, CSGA, and SARP are part of the NHLBI-supported SNP Typing for Association with Multiple Phenotypes from Existing Epidemiologic Data (STAMPEED) consortium.) For the GWAS, we developed a common set of 1 million genotyped and imputed SNPs from the EVE Asthma Genetics Consortium to be tested for association with asthma and associated phenotypes in all samples and combined p-values for a grand meta-analysis for asthma gene discovery. A subset of 296 individuals representing African American, European American, and Latino ancestry were selected for whole genome sequencing. The broad goals of this project were to characterize the genetic architecture of asthma and associated quantitative phenotypes (e.g., lung function, total serum IgE) in ethnically diverse populations from the U.S., Mexico, Puerto Rico, and Barbados.

pht007049.v1.p1

1 Item-grupp 3 Dataelement

pht007050.v1.p1

1 Item-grupp 11 Dataelement

pht007051.v1.p1

1 Item-grupp 3 Dataelement

Eligibility

1 Item-grupp 1 Dataelement

dbGaP phs001216 A Genome-Wide Association Study for Post-bronchodilator Lung Function in Children with Asthma - Eligibility

- 2023-05-16 - 5 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Juan C. Celedon, MD, DrPH, National Institutes of Health, Bethesda, MD, USA MeSH: Asthma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001216 In this study, we conducted a genome-wide association study (GWAS) of post-bronchodilator (BD) FEV1 (forced expiratory volume in 1 second) and FEV1/FVC (forced vital capacity) in Puerto Rican children with asthma. From September 2003 to June 2010, we recruited 618 Puerto Rican children with asthma, which was defined as physician diagnosed asthma and at least one episode of wheezing in the previous year. The recruited children include 267 from public schools in Hartford, Connecticut and 351 from randomly selected households in San Juan, Puerto Rico.

pht005785.v1.p1

1 Item-grupp 5 Dataelement

pht005786.v1.p1

1 Item-grupp 5 Dataelement

pht005787.v1.p1

1 Item-grupp 6 Dataelement

pht005788.v1.p1

1 Item-grupp 5 Dataelement

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

- 2023-02-21 - 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

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

- 2022-12-13 - 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

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

- 2022-11-04 - 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

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