Selected data models

You must log in to select data models for download or further analysis.

23 Search results.
Relevance Rating New first Old first

dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 11/27/24 - 6 forms, 2 itemgroups, 11 items, 1 language
Itemgroups: 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 itemgroup 5 items

pht005288.v1.p1

1 itemgroup 6 items

pht004844.v1.p1

1 itemgroup 2 items

pht004845.v1.p1

1 itemgroup 3 items

pht004846.v1.p1

1 itemgroup 18 items

dbGaP phs001076 Inflammatory Bowel Disease Exome Sequencing Study - pht005361.v1.p1

- 6/23/23 - 4 forms, 1 itemgroup, 5 items, 1 language
Itemgroup: pht005361
Principal Investigator: Mark Daly, PhD, Massachusetts General Hospital, Boston, MA, USA and The Broad Institute, Cambridge, MA, USA MeSH: Inflammatory Bowel Diseases,Crohn Disease,Colitis, Ulcerative https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001076 The Broad Institute and Massachusetts General Hospital (MGH) are launching a new initiative to perform large-scale exome sequencing in inflammatory bowel disease (Crohn's disease and ulcerative colitis). Given the considerable unmet therapeutic need in inflammatory bowel disease (IBD), the recent emergence of rapid and efficient genome sequencing technologies and the compelling evidence for the role of genetics in these disorders have motivated the founding of a collaborative sequencing effort geared toward the discovery of high-impact genetic variants influencing IBD risk that can serve as guides to future therapeutic development and diagnostic tools. The initiative will be directed by experienced IBD researchers from MGH and the Broad Institute but aims to develop a collaborative exome sequencing network that will partner with researchers worldwide. Two large pilot exome sequencing projects are being launched immediately as part of this initiative based on established genetic study designs that enrich for the discovery of rare, high-impact risk and protective variants. *1) Early-onset pediatric IBD:* a major focus of the work will surround full-exome sequencing of the earliest-onset childhood IBD cases. It has long been recognized in many diseases that penetrant genetic risk factors are much more likely to be found in cases with unusually early onset. The Broad Institute has completed more than 50,000 exomes in the past two years; and their technical expertise in generating and processing such sequencing data, along with population genetic variation patterns from these experiments, will provide a foundation for obtaining the best outcome in the interpretation of these cases. Samples with IBD onset before 6 years of age - and in some cases going up to age 10 - collected by IBD researchers around the world are welcomed for inclusion in this study. *2) Adult-onset IBD case-control study:* Genetic mapping has provided dramatic insights into IBD pathogenesis in recent years, but a substantial amount of heritability - in particular the role of strong-acting rare mutations - is yet to be elucidated. To deliver those insights, IBD cases with an unusually low burden of known genetic risk factors (particularly emphasizing those with positive family history and/or from isolated or enriched populations) will be contrasted with population controls that have an extremely high burden of known IBD risk factors, enhancing discovery of critical protective variants that may provide the best clues for therapeutic development. This project will also be initiated as an international collaboration, particularly among researchers with sample sets with Immunochip genotyping that will enable the immediate genetic identification of these enriched target populations. This project will be supported by the NHGRI Large-Scale Sequencing Program, with all generated data made publicly available to the research community through standard NIH databases.

pht005362.v1.p1

1 itemgroup 3 items

pht005363.v1.p1

1 itemgroup 3 items

pht005364.v1.p1

1 itemgroup 6 items

dbGaP phs000659 Mount Sinai Hospital (MSH, Toronto, CANADA) pelvic pouch microbiome study - pht003521.v1.p1

- 1/24/23 - 5 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: pht003521
Principal Investigator: Mark Silverberg, MD., PhD, Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, ON, CANADA MeSH: Inflammatory Bowel Diseases,Crohn Disease,Colitis, Ulcerative,Pouchitis,Adenomatous Polyposis Coli https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000659 This study involved evaluation of the tissue associated microbiome of the ileal pouch following surgery for ulcerative colitis (UC) or familial adenomatous polyposis (FAP). Individuals were recruited, with biopsies taken from the ileal pouch and the pre-pouch ileum, microbial DNA was extracted and sequenced using 454 pyrosequencing. Total bacterial community structure and abundance were evaluated to determine which changes were characteristic of inflammatory phenotypes including pouchitis (inflammation of the ileal pouch) and a Crohn's disease-like phenotype.

Eligibility

1 itemgroup 7 items

pht003522.v1.p1

1 itemgroup 3 items

pht003523.v1.p1

1 itemgroup 6 items

pht003524.v1.p1

1 itemgroup 5 items

dbGaP phs000345 NIDDK IBD Genetics Consortium Ulcerative Colitis Genome-Wide Association Study - Eligibility

- 12/12/22 - 4 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Judy Cho, MD, Department of Medicine, Yale University, New Haven, CT, USA MeSH: Colitis, Ulcerative,Inflammatory Bowel Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000345 This dataset contains data for 1,028 white, non-Hispanic, European ancestry individuals with ulcerative colitis who were included in a genome-wide association study published by Silverberg et al. (2009). These individuals were ascertained in North America and selected to have either left-sided or extensive disease (i.e., individuals with proctitis only were excluded). Genotyping was performed using the Illumina HumanHap300v2 (n = 540) and HumanHap550v3 (n = 488) Genotyping BeadChips at the Feinstein Institute for Medical Research. Control data (not included) were obtained from the NIDDK IBD Genetics Consortium's Crohn's Disease GWAS (available from dbGaP) and from studies 64 and 65 deposited in the Illumina iControlDB. Seven hundred eighty individuals in this dataset were taken from the NIDDK IBD Genetics Consortium cell line repository (http://www.niddkrepository.org). These individuals are identified in the file dbGaP_SubjectDS.txt. The subject IDs for these individuals may be used to request corresponding samples for follow-up research through the repository. In addition, complete phenotype data for these individuals are included, collected using the Consortium's forms and phenotyping manual (both included). The remaining 248 individuals were identified from pre-existing collections ascertained by members of the Consortium or their collaborators. For these samples, several of the items in the phenotype file are incomplete. Those who wish to replicate the results in Silverberg et al. should note that 6 individuals with missing genotype rates 0.07 were excluded from that analysis (leaving 1,022 affected samples total). In addition, the minor allele frequencies (MAFs) reported in the publication were calculated using only those individuals who were included in the allelic association tests (n = 977 for SNPs included in the HumanHap300 and n = 476 for SNPs included only in the HumanHap550). These tests were performed using conditional logistic regression on gender-ancestry strata; individuals who were not placed in a stratum (using the procedure described in the supplementary information for Silverberg et al.) were excluded. The indicator variables hh300 and hh550 in the file dbGaP_PhenotypeDS.txt identify the samples included in the allelic association tests, and may be used to replicate the published MAFs among affected individuals.

pht002374.v1.p1

1 itemgroup 5 items

pht002375.v1.p1

1 itemgroup 2 items

pht002376.v1.p1

1 itemgroup 60 items

dbGaP phs000262 The Role of the Gut Microbiota in Ulcerative Colitis - pht001279.v3.p2

- 10/12/22 - 5 forms, 1 itemgroup, 5 items, 1 language
Itemgroup: pht001279
Principal Investigator: Vincent Young, MD PhD, University of Michigan, Ann Arbor, MI, USA MeSH: Pouchitis,Inflammatory Bowel Diseases,Colitis, Ulcerative https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000262 The aims of the multi-center Ulcerative Colitis Human Microbiome Project (UCHMP) are to examine the role of the enteric microbiome in causing human ulcerative colitis, specifically the development of pouchitis. Pouchitis is an inflammatory condition of the surgically-created ileoanal pouch that serves as a pseudo-rectum in patients with ulcerative colitis who have undergone a total colectomy. It is a condition unique to ulcerative colitis (UC), as it rarely occurs in non-UC patients who have the same procedure. Within one year, about 50% of patients will develop pouchitis. The condition is almost certainly due to aspects of the pouch microbiota on a background of genetic susceptibility, as most patients respond to treatment with antibiotics. While there have been reports on the microbiota in pouchitis patients, all have been performed after the inflammatory process is initiated, rendering interpretation of the results difficult, as the inflammatory process itself will change the microbiota. *Our project is therefore unique and possibly the only opportunity in the role of the enteric microbiome in IBD in a prospective manner, thereby establishing potentially important causal relationships between microbiota structure or function and development of UC.*The studies also offer two additional advantages. First, the development of the pouch microbiota can be observed prospectively. Second, the cause of antibiotic treatment failure in some patients with pouchitis may be revealed. The two aims are (1) to identify causal factors in the structure and/or function of the enteric microbiota in the development of pouchitis, and (2) to determine the basis of treatment failure in UC pouchitis patients. Our analyses will include serial measurements of enteric microbial structure (16S rRNA gene-based), function (metagenomics and functional candidate genes), and cultivation, the latter to enhance interpretation of gene sequences derived from metagenomes and targeted gene surveys (either functional or 16S genes). The insights gained from these studies will help us understand the fundamental and causative roles of the enteric microbiome in human inflammatory bowel diseases (IBD). This information will be the basis for developing strategies to restore host-microbial relationships to prevent and treat IBD.

pht001280.v3.p2

1 itemgroup 5 items

Eligibility

1 itemgroup 9 items

pht006261.v1.p2

1 itemgroup 6 items

pht006262.v1.p2

1 itemgroup 10 items

dbGaP phs000367 Genome Wide Association Study in Familial Crohn's Disease - Eligibility

- 10/12/22 - 6 forms, 1 itemgroup, 4 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Steven R. Brant, MD, Johns Hopkins University, Baltimore, MD, USA MeSH: Crohn Disease,Colitis, Ulcerative,Inflammatory Bowel Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000367 The National Institute of Diabetes and Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK - IBDGC) conducted a genome wide association study (GWAS) using the Human Omni2.5-Quad beadchip from Illumina to identify disease variants associated with familial Crohn's disease. This study includes a subset of individuals from an original cohort of affected subjects and affected/unaffected relatives from a previous linkage scan which showed increased linkage evidence at three novel risk loci. A total of 708 samples were selected based on various criteria for inclusion from the 6 Genetic Research Centers (GRC) in North America that participate in the IBDGC. This project was supported by an ancillary R01 grant from the NIDDK with resources made available through the IBDGC.

pht003260.v1.p1

1 itemgroup 4 items

pht003261.v1.p1

1 itemgroup 5 items

pht003262.v1.p1

1 itemgroup 5 items

pht003263.v1.p1

1 itemgroup 5 items

pht003264.v1.p1

1 itemgroup 6 items

Registration CRF ImproveCareNow

- 9/20/21 - 1 form, 8 itemgroups, 34 items, 1 language
Itemgroups: Registration, Demographics, Race, Parents Education, Health Insurance, Height; Weight, Extent of Disease Crohn’s Disease Indeterminate colitis, Extent of Ulcerative Colitis
Type of information collected in the ICN2 Database for the scientific infrastructure "ImproveCareNow" (http://www.improvecarenow.org/) to improve health outcome of chrildren and adolescents with IBD.

Eligibility NCT00820365 Inflammatory Bowel Disease (IBD) - Eligibility

- 9/20/21 - 1 form, 2 itemgroups, 45 items, 2 languages
Itemgroups: Inclusion Criteria, Exclusion Criteria
ODM derived from http://clinicaltrials.gov/show/NCT00820365

Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing NCT00721812 - Concomitant Medications

- 5/26/21 - 1 form, 3 itemgroups, 14 items, 1 language
Itemgroups: Administrative, Concomitant Medications, Concomitant Medications
Study ID: 111406 Clinical Study ID: 111406 Study Title: A First-Time-in-Human Study to Evaluate the Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing in Healthy Volunteers using a Dose- Escalating, Randomized, Placebo-Controlled Study Design Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT00721812 Sponsor: GlaxoSmithKline Phase: Phase 1 Study Recruitment Status: Completed Generic Name: Placebo, locally-acting anti-inflammatory compound GSK1399686 Study Indication: Inflammatory Bowel Diseases

Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing NCT00721812 - Liver Assessment; Liver Biopsy; Liver Events; Liver Imaging

- 5/26/21 - 1 form, 10 itemgroups, 76 items, 1 language
Itemgroups: Administrative, Liver Events Assessment, Liver Biopsy, Liver Events, Alcohol Intake, Liver Disease Medical Conditions, Drug Related Liver Disease Conditions, Other Liver Disease Conditions, Other Medical Conditions, Liver Imaging
Study ID: 111406 Clinical Study ID: 111406 Study Title: A First-Time-in-Human Study to Evaluate the Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing in Healthy Volunteers using a Dose- Escalating, Randomized, Placebo-Controlled Study Design Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT00721812 Sponsor: GlaxoSmithKline Phase: Phase 1 Study Recruitment Status: Completed Generic Name: Placebo, locally-acting anti-inflammatory compound GSK1399686 Study Indication: Inflammatory Bowel Diseases

Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing NCT00721812 - Pregnancy Notification Form (Subject's Partner)

- 5/18/21 - 1 form, 6 itemgroups, 45 items, 1 language
Itemgroups: Administrative, Pregnancy Notification Form (Subject's Partner) - Mother's Relevant Medical/Family History, Pregnancy Notification Form (Subject's Partner) - Father's Relevant Medical/Family History , Pregnancy Notification Form (Subject's Partner) - Drug Exposures, Was the subject withdrawn from the study as a result of this pregnancy?, Pregnancy Notification Form (Subject's Partner) - Reporting Investigator Information
Study ID: 111406 Clinical Study ID: 111406 Study Title: A First-Time-in-Human Study to Evaluate the Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing in Healthy Volunteers using a Dose- Escalating, Randomized, Placebo-Controlled Study Design Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT00721812 Sponsor: GlaxoSmithKline Phase: Phase 1 Study Recruitment Status: Completed Generic Name: Placebo, locally-acting anti-inflammatory compound GSK1399686 Study Indication: Inflammatory Bowel Diseases

Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing NCT00721812 - Non-Serious Adverse Events; Serious Adverse Events; SAE Follow-up

- 5/18/21 - 1 form, 18 itemgroups, 61 items, 1 language
Itemgroups: Administrative, Non-Serious Adverse Event, Non-Serious Adverse Event, Serious Adverse Event (Section 1), Serious Adverse Event (Section 1), Serious Adverse Event - Seriousness (Section 2), Serious Adverse Event - Demography Data (Section 3), Serious Adverse Event - Investigational Product, Serious Adverse Event - Causes (Section 5), Serious Adverse Event - RELEVANT Medical Conditions (Section 6), Serious Adverse Event - Other RELEVANT Risk Factors (Section 7) , Serious Adverse Event - Concomitant Medications (Section 8), Serious Adverse Event - Details of Investigational Product(s) (Section 9), Serious Adverse Event - Details of RELEVANT Assessments (Section 10), Serious Adverse Event - Narrative Remarks (Section 11), SAE - Investigator's signature, Serious Adverse Event (SAE) - Additional/ Follow-up Information, Investigator's Signature (SAE Follow-up)
Study ID: 111406 Clinical Study ID: 111406 Study Title: A First-Time-in-Human Study to Evaluate the Safety, Tolerability and Pharmacokinetics of GSK1399686 After Single and Repeated Oral Dosing in Healthy Volunteers using a Dose- Escalating, Randomized, Placebo-Controlled Study Design Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT00721812 Sponsor: GlaxoSmithKline Phase: Phase 1 Study Recruitment Status: Completed Generic Name: Placebo, locally-acting anti-inflammatory compound GSK1399686 Study Indication: Inflammatory Bowel Diseases

Help

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial