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  1. 1. Ensayo clínico
  2. 2. Documentación de rutina
  3. 3. Estudio de registro / cohorte
  4. 4. Seguro de calidad
  5. 5. Estándar de datos
  6. 6. Resultado reportado por el paciente
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- 29/1/25 - 5 forms, 1 itemgroup, 5 items, 1 language
Itemgroup: pht005916
Principal Investigator: Jeffrey Krischer, PhD, University of South Florida, Tampa, FL, USA MeSH: Diabetes Mellitus, Type 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001037 The Environmental Determinants of Diabetes in the Young (TEDDY) Study investigates genetic and genetic-environmental interactions, including gestational infection or other gestational events, childhood infections and other environmental factors after birth, in relation to the development of pre-diabetic islet autoimmunity and type 1 diabetes (T1D). Beginning in 2002, a consortium of six centers assembled to participate in the development and implementation of studies to identify environmental factors that trigger the development of islet autoimmunity and T1D in genetically susceptible individuals. The TEDDY study screened around 400,000 newborns and recruited 7,749 neonates from the general population with a pre-determined T1D risk of 3% and 919 neonates with first degree relatives who have T1D and who have a pre-determined T1D risk of 10%. Thus, TEDDY proposes to follow over 8,000 participants across six clinical centers worldwide (Finland, Germany, Sweden and three in the United States) until the age of 15. Participants are followed every three months for islet autoantibody measurements with blood sampling until four years of age and then at least every six months until the age of 15. After the age of four, autoantibody positive subjects continue to be followed at 3 month intervals and autoantibody negative subjects are followed at six month intervals. In addition to the analysis of autoantibodies, additional data and sample collection is performed at each visit. The parents collect monthly stool samples in early childhood. The parents also fill out questionnaires at regular intervals in connection with study visits and record information about diet and health status in the child's TEDDY Book between visits. Continued long-term follow-up of the currently active TEDDY participants will provide important scientific information on early childhood diet, reported and measured infections, vaccinations, and psychosocial stressors that may contribute to the development of type 1 diabetes and islet autoimmunity. DNA extracted from the 9-month TEDDY blood sample was used for SNP genotyping. Samples were available for 7,082 participants. SNPs were genotyped by the Center for Public Health Genomics at the University of Virginia, using the Illumina ImmunoChip SNP microarray of around 196,000 SNPs selected from 186 regions associated with 12 autoimmune diseases (including T1D) (Hadley et al., 2015). "Data quality control (QC) steps included eliminating subjects with a low call rate ( 5% SNPs missing) and discrepancies between reported gender and prior genotyping at the HLA laboratory. Secondly, SNPs were removed from analysis due to low call rate, Hardy-Weinberg equilibrium P value 10sup-6/sup, except for chromosome 6 due to HLA eligibility requirements)" (Törn et al., 2015). QC resulted in a total of 7,023 subjects with data on 176,586 SNPs. Additional information on the TEDDY study are available in the following articles: The Environmental Determinants of Diabetes in the Young (TEDDY) Study. TEDDY Study Group. Annals of the New York Academy of Science, 2008 and TEDDY - The Environmental Determinants of Diabetes in the Young - An Observational Clinical Trial. Annals of the New York Academy of Science, 2006 Details of the TEDDY protocol can be found in The Environmental Determinants of Diabetes in the Young (TEDDY): Genetic Criteria and International Diabetes Risk Screening of 421,000 infants. Pediatric Diabetes, 2011

pht005917.v1.p1

1 itemgroup 7 items

pht005918.v1.p1

1 itemgroup 3 items

pht005919.v1.p1

1 itemgroup 2 items

pht005920.v1.p1

1 itemgroup 5 items
- 22/1/25 - 6 forms, 1 itemgroup, 32 items, 1 language
Itemgroup: IG.elig
Principal Investigator: J.H. Warram, Joslin Diabetes Center, Boston, MA, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000018 Genetics of Kidneys in Diabetes (GoKinD) study is an initiative aimed at identifying susceptibility genes for diabetic nephropathy in type 1 diabetes. A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes. Those who met additional entry criteria and consented to participate were enrolled. When possible, both parents were also enrolled to form family trios. Altogether, GoKinD includes 3043 participants comprising 931 cases, 944 singletons, 268 pairs of parents of cases, and 316 pairs of parents of control. Accessible as a GAIN database are 905 of the cases, 890 of the controls, 10 pairs of parents of cases and 10 pairs of parents of controls. The other parents and the remaining cases and controls are available by a separate application process through NIDDK (dbGaP phs000088 *Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK*). Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form available at Juvenile Diabetes Research Foundation. *Consent groups and participant set* - Diabetic complications only (DCO): 1825 (904 cases, 881 controls, 40 others)

pht004354.v1.p1

1 itemgroup 2 items

pht004355.v1.p1

1 itemgroup 6 items

pht004356.v1.p1

1 itemgroup 4 items

pht000062.v1.p1

1 itemgroup 54 items

pht004357.v1.p1

1 itemgroup 2 items
- 11/4/24 - 7 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: IG.elig
Principal Investigator: Stephen S. Rich, PhD, University of Virginia, Charlottesville, VA, USA MeSH: Diabetes Mellitus, Type 1,Autoimmune Diseases,Autoantibodies https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000911 The Type 1 Diabetes Genetics Consortium (T1DGC) was formed to address issues of limited sample size and consistency of phenotyping that had limited genetic investigations on risk of type 1 diabetes (T1D). The T1DGC first collected affected sib pair (ASP) families from four geographic networks (Asia-Pacific, Europe, North America, United Kingdom). In addition, T1D cases and controls were ascertained from existing and de novo collections. The T1DGC assembled 2,601 T1D ASP families and 69 Parent-T1D offspring trios, T1D cases from the UK Genetic Resource Investigating Diabetes (UKGRID, N=6,670), and controls from the British 1958 Birth Cohort (B58BC, N=6,523), the UK National Blood Services collection (NBS, N=2,893) and the NIHR Cambridge Biomedical Research Centre BioResource (CBR, N=2,846). All samples included in this series have reported or self-declared European ancestry. All DNA samples were collected after approval from relevant institutional research ethics committees. Genotyping was performed using a custom Illumina Infinium high-density genotyping array, ImmunoChip (Illumina, Inc; CA) according to manufacturer's protocols. The ImmunoChip was designed to densely genotype, using 1000 Genomes and any other available disease specific resequencing data, immune-mediated disease loci identified by common variant GWAS. The ImmunoChip Consortium selected 186 distinct loci containing markers meeting genome wide significance criteria (P5x10-8) from twelve such diseases (autoimmune thyroid disease, ankylosing spondylitis, Crohn's disease, celiac disease, IgA deficiency, multiple sclerosis, primary biliary cirrhosis, psoriasis, rheumatoid arthritis, systemic lupus erythematosus, T1D and ulcerative colitis). All 1000 Genomes Project pilot phase CEU population variants (Sept 2009 release) within 0.1cM (HapMap3 CEU) recombination blocks around each GWAS region lead marker were submitted for array design. No filtering on correlated variants (linkage disequilibrium) was applied. Additional content included regional resequencing data (submitted by several groups) as well as a small proportion of investigator-specific undisclosed content including intermediate GWAS results. After data cleaning and quality control, a total of 154,939 single nucleotide polymorphisms (SNPs) from 186 loci on ImmunoChip were scored. Case-control and family data were analyzed independently and combined by meta-analysis.

pht004975.v1.p1

1 itemgroup 5 items

pht004976.v1.p1

1 itemgroup 6 items

pht004977.v1.p1

1 itemgroup 3 items

pht004978.v1.p1

1 itemgroup 4 items

pht004979.v1.p1

1 itemgroup 7 items

pht004980.v1.p1

1 itemgroup 6 items
- 11/4/24 - 6 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: IG.elig
Principal Investigator: Stephen S. Rich, PhD, University of Virginia, Charlottesville, VA, USA MeSH: Diabetes Mellitus, Type 1,Autoimmune Diseases,Autoantibodies https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000910 Type 1 Diabetes Genetics Consortium (T1DGC) was formed to address issues of limited sample size and consistency of phenotyping that had limited genetic investigations on risk of type 1 diabetes (T1D). The T1DGC first collected affected sib pair (ASP) families from four geographic networks (Asia-Pacific, Europe, North America, United Kingdom). In addition, T1D parent-offspring trios as well as cases and controls were ascertained from existing and de novo collections. For T1D, the genome-wide association study (GWAS) design has been successful at detecting ~50 loci that contribute disease risk. However, in the case of T1D as well as almost all other traits, the sum of these loci does not fully explain the heritability estimated from familial studies. One possibility for the undiscovered contribution to familial aggregation is that additional variants exist but have not yet been found because they have not effectively been targeted by the GWAS design. In this study, we focus on a specific class of large deletions/duplications -- copy number variants (CNVs) - and particularly to the subset of these loci that mutate rapidly, are not tagged by SNPs, and are highly polymorphic. The T1DGC assembled 2,601 T1D ASP families and 69 Parent-T1D offspring trios, that were eligible for this study. All samples included in this series have reported or self-declared European ancestry. All DNA samples were collected after approval from relevant institutional research ethics committees. Importantly, the source of DNA for CNV evaluation was uniform within a family (either all from PBMC or from EBV-transformed cell lines). We use a family based design that was optimized to capture these previously untested variants. We then perform a genome-wide scan to assess their contribution to T1D.

pht004725.v1.p1

1 itemgroup 5 items

pht004726.v1.p1

1 itemgroup 6 items

pht004727.v1.p1

1 itemgroup 5 items

pht004729.v1.p1

1 itemgroup 14 items

pht004728.v1.p1

1 itemgroup 6 items
- 2/5/23 - 5 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: IG.elig
Principal Investigator: Stephen S. Rich, PhD, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA MeSH: Diabetes Mellitus, Type 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001222 The Type 1 Diabetes Genetics Consortium (T1DGC) was established to collect resources (biological samples and data) and conduct research to better understand the genetic basis of type 1 diabetes (T1D). Collection was initiated by ascertaining affected sib-pair families (both parents, two affected siblings and, when available, an unaffected sibling), collected from five geographic regions through four recruitment networks (Asia-Pacific, Europe, North America, United Kingdom). In addition, the T1DGC collected trio families (both parents and affected child) and cases and controls from low-prevalence populations (African-American, with four grandparents self-reporting as African ancestry; Mexican-American, with four grandparents self-reporting as ancestry from Mexico). The T1DGC also served as a repository for contributed collections from other studies, all meeting the broad data-sharing policy of the T1DGC, for inclusion in the genetic studies. These collections include T1D case samples ascertained from the UK Genetic Resource Investigating Diabetes (UK GRID) cohort, SEARCH for Diabetes in Youth (SEARCH), The Genetics of Kidneys in Diabetes (GoKinD), and control samples obtained from the British 1958 Birth Cohort, the UK National Blood Services collection, CLEAR (Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis), the New York Cancer Project (NYCP), and other cohorts. For the NHGRI-funded Centers for Common Disease Genomics (CCDG) project, participants with T1D and ancestry-matched controls were identified through the T1DGC, either through direct ascertainment or by contribution from other sources to the T1DGC. As the CCDG has focused initially on non-Caucasian populations for whole genome sequencing, T1DGC participants of African, Mexican and Asian ancestry (targeting ~1200 cases and ~1200 controls in each ancestral group) and a small group of participants of Northern European ancestry (~100 cases, ~100 controls) were to be contributed to the study. Whole genome sequencing of T1DGC samples would be conducted at Washington University McDonnell Genome Institute and based upon matching case-control status within an ancestry group and prioritization by the CCDG.

pht005907.v1.p1

1 itemgroup 3 items

pht005908.v1.p1

1 itemgroup 2 items

pht005909.v1.p1

1 itemgroup 3 items

pht005910.v1.p1

1 itemgroup 5 items
- 13/12/22 - 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
- 12/10/22 - 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
- 20/9/21 - 1 form, 9 itemgroups, 32 items, 1 language
Itemgroups: Patient ID, Demographic Factors, Lifestyle and Social Factors, Treatment variables, Clinician-reported Outcomes: Chronic Complications, Patient reported Outcomes: Financial Barriers to Care, Patient reported Outcome: Psychological Well-being, Patient-reported outcomes: Diabetes Distress, Patient-reported outcomes: Depression
Type 1 and Type 2 Diabetes in Adults DATA COLLECTION Version 1.0.0 Revised February 28th, 2019 www.ichom.org Notice: This work was conducted using resources from ICHOM, the International Consortium for Health Outcomes Measurement (www.ICHOM.org). The content is solely the responsibility of the authors and does not necessarily represent the official views of ICHOM. Conditions: Type 1 Diabetes | Type 2 Diabetes Excluded Conditions: Diabetes mellitus types other than 1 and 2 | Secondary Diabetes | Gestational Diabetes Population: Adults Aged 18 years and Above Excluded Populations: Children and Young persons below 18 years Treatment Approaches: Non-Pharmacological Therapy | Non-Insulin-based Pharmacological Therapy | Insulin-based Pharmacological Therapy This form is for documentation of characteristics to be reported annually by the patient. If necessary (i.e. information not already on the 6-monthly clinician-reported form) please also fill in the 6-monthly patient-reported form. It is sufficient for the educational status to only be updated every 5 years. Use of the following Scores for this standard set: WHO (Five) Well-Being Index (WHO-5): The WHO-5 is free for all health care organizations, and a license is not needed. There are translations available. The total raw score, ranging from 0 to 25, is multiplied by 4 to give the final score, with 0 representing the worst imaginable well-being and 100 representing the best imaginable well-being. More information (including the WHO-5 Scoring Guide) may be found at www.who-5.org. Problem Areas in Diabetes Questionnaire (PAID): The PAID, authored by Joslin Diabetes Center (http://www.joslin.org), is the copyright of Joslin Diabetes Center (Copyright ©2000, Joslin Diabetes Center). The PAID, provided under license from Joslin Diabetes Center may not be copied, distributed or used in any way without the prior written consent of Joslin Diabetes Center. Contact Susan D. Sjostrom at Joslin Diabetes Center at: susan.sjostrom@joslin.harvard.edu for licensing details and scoring guide. Patient Health Questionnaire (PHQ-9): Copyright by Pfizer: "content found on the PHQ Screeners site is free for download and use as stated within the PHQ Screeners site", please visit http://www.phqscreeners.com/ for more information. For this standard set ICHOM was supported by Imperial College London Diabetes Centre and JDRF. Publication: Nano J, Carinci F, Okunade O, et al. A standard set of person-centred outcomes for diabetes mellitus: results of an international and unified approach. Diabetic Medicine [Internet]. [cited 2020 Mar 4];n/a(n/a). Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/dme.14286 For this version of the standard set, semantic annotation with UMLS CUIs has been added.
- 20/9/21 - 1 form, 12 itemgroups, 37 items, 1 language
Itemgroups: Patient ID, Demographic Factors, Diagnosis Profile, Lifestyle and Social Factors, Treatment variables, Clinician Reported Outcomes: Glycemic Control, Clinician Reported Outcomes: Acute Events, Clinician-reported Outcomes: Chronic Complications, Patient reported Outcomes: Financial Barriers to Care, Patient reported Outcome: Psychological Well-being, Patient-reported outcomes: Diabetes Distress, Patient-reported outcomes: Depression
Type 1 and Type 2 Diabetes in Adults DATA COLLECTION Version 1.0.0 Revised February 28th, 2019 www.ichom.org Notice: This work was conducted using resources from ICHOM, the International Consortium for Health Outcomes Measurement (www.ICHOM.org). The content is solely the responsibility of the authors and does not necessarily represent the official views of ICHOM. Conditions: Type 1 Diabetes | Type 2 Diabetes Excluded Conditions: Diabetes mellitus types other than 1 and 2 | Secondary Diabetes | Gestational Diabetes Population: Adults Aged 18 years and Above Excluded Populations: Children and Young persons below 18 years Treatment Approaches: Non-Pharmacological Therapy | Non-Insulin-based Pharmacological Therapy | Insulin-based Pharmacological Therapy This form is for documentation of baseline characteristics to be reported by the patient. Use of the following Scores for this standard set: WHO (Five) Well-Being Index (WHO-5): The WHO-5 is free for all health care organizations, and a license is not needed. There are translations available. The total raw score, ranging from 0 to 25, is multiplied by 4 to give the final score, with 0 representing the worst imaginable well-being and 100 representing the best imaginable well-being. More information (including the WHO-5 Scoring Guide) may be found at www.who-5.org. Problem Areas in Diabetes Questionnaire (PAID): The PAID, authored by Joslin Diabetes Center (http://www.joslin.org), is the copyright of Joslin Diabetes Center (Copyright ©2000, Joslin Diabetes Center). The PAID, provided under license from Joslin Diabetes Center may not be copied, distributed or used in any way without the prior written consent of Joslin Diabetes Center. Contact Susan D. Sjostrom at Joslin Diabetes Center at: susan.sjostrom@joslin.harvard.edu for licensing details and scoring guide. Patient Health Questionnaire (PHQ-9): Copyright by Pfizer: "content found on the PHQ Screeners site is free for download and use as stated within the PHQ Screeners site", please visit http://www.phqscreeners.com/ for more information. For this standard set ICHOM was supported by Imperial College London Diabetes Centre and JDRF. Publication: Nano J, Carinci F, Okunade O, et al. A standard set of person-centred outcomes for diabetes mellitus: results of an international and unified approach. Diabetic Medicine [Internet]. [cited 2020 Mar 4];n/a(n/a). Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/dme.14286 For this version of the standard set, semantic annotation with UMLS CUIs has been added.

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