Keywords
Kidney Failure, Chronic ×
Table of contents
  1. 1. Clinical Trial
  2. 2. Routine Documentation
  3. 3. Registry/Cohort Study
  4. 4. Quality Assurance
  5. 5. Data Standard
  6. 6. Patient-Reported Outcome
  7. 7. Medical Specialty
Selected data models

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- 4/28/24 - 5 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: IG.elig
Principal Investigator: Ruth Loos, PhD, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA MeSH: Cardiovascular Diseases,Obesity,Diabetes Mellitus, Type 2,Glucose,Kidney Failure, Chronic,Cholesterol, HDL,Cholesterol, LDL,Triglycerides,Coronary Disease,Myocardial Infarction,Inflammation,Stroke,Body Height https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000925 The Institute for Personalized Medicine (IPM) Bio*Me* Biobank is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Bio*Me* Biobank populations include 28% African American, 38% Hispanic Latino predominantly of Caribbean origin, 23% Caucasian/White. IPM BioMe Biobank disease burden is reflective of health disparities with broad public health impact. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study (phs000356).

pht005176.v1.p1

1 itemgroup 4 items

pht005178.v1.p1

1 itemgroup 6 items

pht006203.v1.p1

1 itemgroup 6 items

pht005177.v1.p1

1 itemgroup 5 items
- 3/5/23 - 4 forms, 1 itemgroup, 6 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Sharon L.R. Kardia, PhD, University of Michigan, Ann Arbor, MI, USA MeSH: Hypertension,Aging,Arterial Pressure,Arteriosclerosis,Atherosclerosis,Biomarkers,Blood Pressure,Cardiovascular Diseases,Cholesterol,Cholesterol, HDL,Cholesterol, LDL,Coronary Artery Disease,Diabetes Mellitus,Echocardiography,Endophenotypes,Hyperglycemia,Hyperinsulinism,Hypertrophy, Left Ventricular,Inflammation,Kidney Failure, Chronic,Leukoaraiosis,Lipids,Obesity,Obesity, Abdominal,Peripheral Arterial Disease,Renal Insufficiency, Chronic,Triglycerides,Vascular Calcification https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001345 The Genetic Epidemiology Network of Arteriopathy (GENOA) is one of four networks in the NHLBI Family-Blood Pressure Program (FBPP). GENOA's long-term objective is to elucidate the genetics of target organ complications of hypertension, including both atherosclerotic and arteriolosclerotic complications involving the heart, brain, kidneys, and peripheral arteries. The longitudinal GENOA Study recruited European-American and African-American sibships with at least 2 individuals with clinically diagnosed essential hypertension before age 60 years. All other members of the sibship were invited to participate regardless of their hypertension status. Participants were diagnosed with hypertension if they had either 1) a previous clinical diagnosis of hypertension by a physician with current anti-hypertensive treatment, or 2) an average systolic blood pressure = 140 mm Hg or diastolic blood pressure = 90 mm Hg based on the second and third readings at the time of their clinic visit. Only participants of the African-American Cohort were sequenced through TOPMed. The Family Blood Pressure Program (FBPP), GENOA's parent program, is an unprecedented collaboration to identify genes influencing blood pressure (BP) levels, hypertension, and its target-organ damage. This program has conducted over 21,000 physical examinations, assembled a shared database of several hundred BP and hypertension-related phenotypic measurements, completed genome-wide linkage analyses for BP, hypertension, and hypertension associated risk factors and complications, and published over 130 manuscripts on program findings. The FBPP emerged from what was initially funded as four independent networks of investigators (HyperGEN, GenNet, SAPPHIRe and GENOA) competing to identify genetic determinants of hypertension in multiple ethnic groups. Realizing the greater likelihood of success through collaboration, the investigators created a single confederation with program-wide and network-specific goals. Comprehensive phenotypic data for GENOA study participants are available through dbGaP phs001238.

pht008602.v1.p1

1 itemgroup 4 items

pht008603.v1.p1

1 itemgroup 2 items

pht008604.v1.p1

1 itemgroup 10 items
- 10/12/22 - 4 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: pht002351
Principal Investigator: Erwin P. Bottinger, Charles R. Bronfman Institute for Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA MeSH: Coronary Artery Disease,Chronic Kidney Failure,Diabetes Mellitus, Type 2,Hypertension,Dyslipidemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000388 The Institute for Personalized Medicine (IPM) Biobank Project is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Biobank populations include 28% African American (AA), 38% Hispanic Latino (HL) predominantly of Caribbean origin, 23% Caucasian/White (CW). IPM Biobank disease burden is reflective of health disparities with broad public health impact: average body mass index of 28.9 and frequencies of hypertension (55%), hypercholesterolemia (32%), diabetes (30%), coronary artery disease (25%), chronic kidney disease (23%), among others. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites, waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. Minorities are strikingly underrepresented in GWAS, including Coronary Artery Disease (CAD) and Chronic Kidney Disease; multigenic genetic risk scores for CAD have been recently validated in European ancestry populations, but not in AA or HL populations. Several important opportunities exist for extending additional GWAS to minority populations with a shared risk spectrum of CAD and CKD. For example, progressive CKD is a major and independent risk factor for CVD with an inverse relationship between estimated GFR (eGFR), and risk for mortality and cardiovascular events. This increased risk is only partially explained by the prevalence of cardiovascular risk factors among these patients. We conducted a GWAS of CAD and CKD related phenotypes in IPM Biobank with the primary objective to explore the genetics of overlapping CAD and CKD predominantly in minority populations characterized by increased risk.

pht002352.v1.p1

1 itemgroup 2 items

pht002353.v1.p1

1 itemgroup 9 items

Eligibility

1 itemgroup 1 item
- 10/12/22 - 4 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Joel Hirschhorn, Broad Institute and Children's Hospital Boston, Boston, MA, USA MeSH: Diabetic Nephropathy,Kidney Failure, Chronic,Albuminuria,Diabetes Mellitus, Type 1,Diabetes Complications https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000389 Diabetic kidney disease, or diabetic nephropathy (DN), is one of the leading causes of end-stage renal disease in the United States and worldwide. DN is a common complication of long-standing type 1 and type 2 diabetes. The clinical course is characterized by development of proteinuria and gradual loss of kidney function. Although existing treatments that decrease proteinuria have been shown to moderately abate progression of diabetic kidney disease, many affected patients, who do not die from cardiovascular disease, go on to develop terminal renal failure, necessitating costly renal replacement therapies, such as dialysis and renal transplantation. Type 1 diabetes (T1D) can have its onset in childhood and affected individuals often develop end-stage renal disease in early adulthood, leading to further loss of quality of life. The genetic basis of the disease is not well understood. The GENIE (*GE*netics of *N*ephropathy an *I*nternational *E*ffort) consortium was initiated to perform the most comprehensive and well powered DN susceptibility genome wide association study (GWAS) analysis to date, using the largest collection of type 1 diabetics with and without kidney disease across four study cohorts. The UK-ROI samples were genotyped as part of this project. *UK-ROI Sample Description* The UK-ROI collection consists of samples derived from the Republic of Ireland (Dr. Catherine Godson, PI, at University College, Dublin, Ireland) and the United Kingdom (Warren 3 and Genetics of Kidneys in Diabetes UK, *UK GoKinD*, Dr. Alexander P. Maxwell, PI, at Queen's University of Belfast, UK). All study subjects met the inclusion criteria: white individuals with T1D, diagnosed before 31 years of age, whose parents and grandparents were born in the British Isles.

pht002377.v1.p1

1 itemgroup 5 items

pht002378.v1.p1

1 itemgroup 4 items

pht002379.v1.p1

1 itemgroup 13 items

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