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dbGaP phs001089 HudsonAlpha Institute for Biotechnology Clinical Sequencing Exploratory Research (CSER): Genomic Diagnosis in Children with Developmental Delay - Eligibility

- 11/11/24 - 6 forms, 2 itemgroups, 10 items, 1 language
Itemgroups: IG.0, IG.6
Principal Investigator: Richard M. Myers, PhD, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA MeSH: Intellectual disability,Ataxia,Autism Spectrum Disorder,Autoimmune Diseases,Congenital Abnormalities,Craniofacial Abnormalities,Epilepsy,Eye Abnormalities,Failure to Thrive,Gastrointestinal Diseases,Growth Disorders,Heart Defects, Congenital,Megalencephaly,Microcephaly,Muscular Diseases,Nervous System Disease,Problem Behavior,Seizures,Stereotypic Movement Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001089 The overarching goal of this project is to explore the ability for whole exome and genome sequencing technologies to identify the genetic causes of unexplained developmental delay, intellectual disability (DD/ID), and related congenital anomalies in children. Such information may be useful as an endpoint to the otherwise fruitless "diagnostic odyssey" that many DD/ID affected families undergo and in some cases, identification of these genetic variants may point to better therapeutic or educational options by precisely defining the root cause(s) of the child's condition. We seek to identify causal, diagnostically relevant, genetic variants in children with developmental delay and/or intellectual disability (DD/ID). In addition, because our analytical approach includes sequencing probands and their parents (parent-offspring trios and duos; parents are sequenced when available), secondary findings will be returned to adults (parents) at their request. The aims of this research project include: 1) Use exome and whole genome sequencing to identify genetic variation that results in DD/ID. 2) Return primary genetic results (DD/ID causative) as well as secondary findings to probands and their parents, respectively. 3) Understand how the return of genomic test results affects the health and well-being of study participants. The children participating in this study are patients at, or referrals to, North Alabama Children's Specialist (NACS) in Huntsville, Alabama. All blood samples from probands and their parents will be collected at NACS (project 1). Sequencing will be completed at the HudsonAlpha Institute for Biotechnology, with validation (via Sanger sequencing) conducted at Emory University for all returned variants (project 2). The University of Louisville will oversee questionnaires, surveys and interviews aimed at understanding study participants' perception of, and response to, genetic test results, in addition to assessment of secondary findings preferences (project 3). A subset of variants, largely those determined to be diagnostic or variants of uncertain significance for study participants at the time of disclosure, have been submitted to ClinVar. These variants are listed as part of the "CSER-HudsonAlpha" study within the database.

pht005484.v4.p1

1 itemgroup 6 items

pht005487.v4.p1

1 itemgroup 4 items

pht005483.v4.p1

1 itemgroup 3 items

pht005486.v4.p1

1 itemgroup 29 items

pht005485.v4.p1

1 itemgroup 2 items

dbGaP phs001073 Epigenetic Analysis of Malnutrition - Eligibility

- 6/23/23 - 6 forms, 1 itemgroup, 15 items, 1 language
Itemgroup: IG.elig
Principal Investigator: MeSH: Stunting,Growth Disorders,Malnutrition,Epigenomics,Virus Diseases,Parasitic Diseases,Digestive System Diseases,Respiratory Tract Diseases,Nervous System Diseases,Nutritional and Metabolic Diseases,Immune System Diseases,Disorders of Environmental Origin https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001073 The PROVIDE study (Dhaka, Bangladesh) is a randomized clinical trial platform which evaluated the efficacy of delayed-dose oral rotavirus vaccine as well as the benefit of an injectable polio vaccine replacing one dose of oral polio vaccine. This rigorous infrastructure supported the additional examination of hypotheses of vaccine underperformance. Primary and secondary efficacy and immunogenicity measures for rotavirus and polio vaccines were measured, as well as the impact of maternal and childhood malnutrition, environmental enteropathy, and additional exploratory variables. This study has been conducted to test the role of epigenetics in malnutrition, specifically the genome-wide role of histone modifications, which are known to provide a precise signature of metabolic state and immune system function.

pht005954.v2.p1

1 itemgroup 2 items

pht005955.v2.p1

1 itemgroup 23 items

pht005956.v2.p1

1 itemgroup 7 items

pht005952.v2.p1

1 itemgroup 5 items

pht005953.v2.p1

1 itemgroup 5 items

dbGaP phs000700 RoadmapEpigenomics_Broad - pht003361.v1.p1

- 12/29/22 - 6 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: pht003361
Principal Investigator: Bradley Bernstein, MD, PhD, Massachusetts General Hospital, Boston, MA, USA, Broad Institute, Cambridge, MA, USA MeSH: Nervous System Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000700 For the NIH Roadmap Epigenomics project, we applied ChlP-Seq, HTBS and WGBS pipelines to generate comprehensive high-resolution maps of chromatin state and DNA methylation for 100 diverse cell types. Cell types were selected for their biological and medical importance, and for their potential to maximize the comprehensiveness of acquired epigenomic data. They include human ES cells, ES-derived cells, mesenchymal stem cells, reprogrammed stem cells and primary tissues. Comprehensive characterization of epigenetic marks ("the epigenome") is a critical step towards a global understanding of the human genome in health and disease. In this study we provide unprecedented views of the human epigenetic landscape and its variation across cell states, which offer fundamental insight into the functions and interrelationships of epigenetic marks, and provide a framework for future studies of normal and diseased epigenomes. *The Roadmap Epigenomics Broad cohort is utilized in the following dbGaP sub-study.* To view molecular data and derived variables collected in this sub-study, please click on the following sub-study below or in the "Sub-studies" box located on the right hand side of this top-level study page phs000700 the Roadmap Epigenomics Broad cohort.- phs000610 RM_Epigenomics_Broad_Alz

pht003362.v2.p1

1 itemgroup 6 items

pht003648.v2.p1

1 itemgroup 4 items

pht003649.v2.p1

1 itemgroup 6 items

pht003360.v2.p1

1 itemgroup 4 items

Eligibility

1 itemgroup 1 item

dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders - pht003716.v2.p1

- 12/14/22 - 5 forms, 1 itemgroup, 7 items, 1 language
Itemgroup: pht003716
Principal Investigator: Wendy Raskind, University of Washington, Seattle, WA, USA MeSH: Nervous System Diseases,Ataxia,Charcot-Marie-Tooth Disease,Dyskinesia, Familial, with Facial Myokymia,Dystonia,Hereditary Sensory and Motor Neuropathy,Parkinsonian Disorders,Spinocerebellar Ataxias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000707 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with hereditary neurologic disorders of unknown cause.

pht003714.v2.p1

1 itemgroup 2 items

pht003715.v2.p1

1 itemgroup 5 items

pht003717.v2.p1

1 itemgroup 3 items

Eligibility

1 itemgroup 1 item

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

- 12/13/22 - 5 forms, 1 itemgroup, 7 items, 1 language
Itemgroup: 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 itemgroup 4 items

pht002865.v1.p1

1 itemgroup 5 items

pht002866.v1.p1

1 itemgroup 42 items

pht002867.v1.p1

1 itemgroup 4 items

Neurological History Cardiovascular Health Study (CHS)

- 4/13/21 - 1 form, 9 itemgroups, 191 items, 1 language
Itemgroups: Stroke, TIA, Sudden loss or change of speech, Sudden loss of vision, Double vision, Sudden numbness or tingling, Sudden paralysis or weakness, Dizziness or loss of balance, Date of interview
Documentation part: Record 22 Neurological History The Cardiovascular Health Study (CHS) was initiated by the National Heart, Lung and Blood Institute (NHLBI) in 1987 to determine the risk factors for development and progression of cardiovascular disease (CVD) in older adults, with an emphasis on subclinical measures. The study recruited 5,888 adults aged 65 or older at entry in four U.S. communities and conducted extensive annual clinical exams between 1989-1999 along with semi-annual phone calls, events adjudication, and subsequent data analyses and publications. Additional data were collected by studies ancillary to CHS. With the exception of annual clinic visits, these activities are still ongoing. Data obtained from: https://chs-nhlbi.org/ Permission granted by: Erika Enright.

Eligibility Neurologic Disorders NCT02504840

- 5/22/19 - 1 form, 2 itemgroups, 11 items, 1 language
Itemgroups: Criteria, Exclusion Criteria
Natural History of Multiple Sclerosis and Its Mimickers; ODM derived from: https://clinicaltrials.gov/show/NCT02504840

Pharmacokinetics of an oral contraceptive co-administered with Albiglutide in women - 107032 - Visit 50: Physical Examination

- 12/20/18 - 1 form, 6 itemgroups, 45 items, 1 language
Itemgroups: Administrative data, Vital Signs, General Physical Examination, General Medical History, Detailed Physical Examination, Assessment
Study ID: 107032 Clinical Study ID: GLP107032 Study Title: An open-label study to evaluate the pharmacokinetics of an oral contraceptive containing Norethindrone and Ethinyl Estradiol when co-administered with GSK716155 in healthy adult female subjects Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT01077505 Sponsor: GlaxoSmithKline Collaborators: N/A Phase: Phase 1 Study Recruitment Status: Completed Generic Name: albiglutide Trade Name: Tanzeum,Eperzan Study Indication: Diabetes Mellitus, Type 2

Nerventra Study Unscheduled Visit

- 6/8/16 - 1 form, 4 itemgroups, 38 items, 1 language
Itemgroups: Demographic Information, Reason for unscheduled visit, Safety measurements, Exacerbation
Nerventra Study (Eudra CT 2007-003226-19) Study MS-LAQ-301: A multinational, multicenter, randomized, double-blind, parallel-group, placebo-controlled study, to evaluate the safety, tolerability and efficacy of daily oral administration of laquinimod 0.6 mg in subjects with relapsing remitting multiple sclerosis (RRMS)

Nerventra Study Laboratory data

- 6/8/16 - 1 form, 2 itemgroups, 12 items, 1 language
Itemgroups: Demographic Information, Laboratory parameter
Nerventra Study (Eudra CT 2007-003226-19) Study MS-LAQ-301: A multinational, multicenter, randomized, double-blind, parallel-group, placebo-controlled study, to evaluate the safety, tolerability and efficacy of daily oral administration of laquinimod 0.6 mg in subjects with relapsing remitting multiple sclerosis (RRMS)

Nerventra Study Liver enzyme evaluation

- 6/8/16 - 1 form, 2 itemgroups, 34 items, 1 language
Itemgroups: Demographic Information, Evaluation of liver enzymes
Nerventra Study (Eudra CT 2007-003226-19) Study MS-LAQ-301: A multinational, multicenter, randomized, double-blind, parallel-group, placebo-controlled study, to evaluate the safety, tolerability and efficacy of daily oral administration of laquinimod 0.6 mg in subjects with relapsing remitting multiple sclerosis (RRMS)

Nerventra Study Study drug dispensing and return

- 6/8/16 - 1 form, 3 itemgroups, 22 items, 1 language
Itemgroups: Demographic Information, Drug dispensed, Drug dispensing and return
Nerventra Study (Eudra CT 2007-003226-19) Study MS-LAQ-301: A multinational, multicenter, randomized, double-blind, parallel-group, placebo-controlled study, to evaluate the safety, tolerability and efficacy of daily oral administration of laquinimod 0.6 mg in subjects with relapsing remitting multiple sclerosis (RRMS)

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