Den genomiske medicin ved VA Study (GenoVA)
29. september 2022 opdateret af: Jason Vassy, Boston VA Research Institute, Inc.
Pragmatisk randomiseret undersøgelse af polygen risikoscoring for almindelige sygdomme i primær pleje
Dette forsøg vil bestemme den kliniske effektivitet af polygen risikoscoretest blandt patienter med høj genetisk risiko for mindst én af seks sygdomme (koronararteriesygdom, atrieflimren, type 2 diabetes mellitus, kolorektal cancer, brystkræft eller prostatacancer), målt ved tid til diagnose af udbredt eller hændelig sygdom over 24 måneder.
Studieoversigt
Status
Rekruttering
Betingelser
Intervention / Behandling
Detaljeret beskrivelse
En af de mest presserende kontroverser inden for genomik i dag er den kliniske nytte af polygenisk risikoscore (PRS). Ved at udvide omfanget af genomisk risikotest ud over monogene sygdomme kombinerer PRS information fra hundredvis eller endda millioner af genetiske loci, hver med en meget lille effektstørrelse på risikoen for almindelig kompleks sygdom. Resultatet er en kontinuerlig kvantitativ risikofaktor for modtagelighed for tilstande som koronararteriesygdom (CAD), type 2-diabetes (T2D) og brystkræft. Sammenlignet med sjældnere monogene sygdomsvarianter har PRS et større transformativt potentiale for folkesundhed og sundhedspleje i deres evne til at identificere meget større andele af befolkningen med signifikant forhøjet risiko for sygdom, hvilket letter evidensbaseret forebyggelse og håndtering. Desuden er deres forudsigelsesevne væsentligt forbedret sammenlignet med tidligere PRS, der kun omfattede et begrænset antal genetiske varianter. Men selvom sammenhængen mellem PRS og en bred vifte af almindelige sygdomme er veletablerede (klinisk validitet), er den potentielle indvirkning af denne information på patienters helbredsudfald (klinisk nytte) fortsat omstridt og understuderet.
Denne undersøgelse vil undersøge effektiviteten og implementeringsresultaterne fra brugen af PRS til 6 almindelige sygdomme, der screenes for af PCP'er og har etableret forebyggelsesstrategier: CAD, AFib, T2D, kolorektal cancer, prostatacancer og brystkræft. Dette forsøg har to formål:
Mål 1: Udfør et randomiseret kontrolleret forsøg (RCT) for at bestemme den kliniske effektivitet af PRS blandt patienter med høj genetisk risiko for mindst én sygdom, målt ved ændringer i klinisk ledelse (procesresultater) og tid til diagnosticering af udbredt eller hændelig sygdom ( klinisk resultat) over 24 måneder.
Mål 2: Måle højprioriterede implementeringsresultater for genomisk medicin, herunder viden fra primære udbydere (PCP) og overbevisninger om PRS, patientaktivering i sundhedsvæsenet, overholdelse af medicin og omkostninger.
Undersøgelsestype
Interventionel
Tilmelding (Forventet)
1076
Fase
- Ikke anvendelig
Kontakter og lokationer
Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.
Studiekontakt
- Navn: Jason L. Vassy, MD, MPH, SM
- Telefonnummer: 857-364-2561
- E-mail: jvassy@partners.org
Studiesteder
-
-
Massachusetts
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Boston, Massachusetts, Forenede Stater, 02130-4817
- Rekruttering
- VA Boston Healthcare System
-
Kontakt:
- Jason L. Vassy, MD, MPH, SM
- Telefonnummer: 857-364-2561
- E-mail: jvassy@partners.org
-
-
Deltagelseskriterier
Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.
Berettigelseskriterier
Aldre berettiget til at studere
50 år til 70 år (Voksen, Ældre voksen)
Tager imod sunde frivillige
Ingen
Køn, der er berettiget til at studere
Alle
Beskrivelse
Inklusionskriterier:
- Alder 50-70 år ved indskrivning
- Ingen kendt diagnose af følgende tilstande, indledningsvis screenet ved hjælp af International Classification of Disease (ICD)-koder eller andre elektroniske sundhedsjournaldata (EPJ) ved hjælp af validerede metoder og derefter bekræftet med potentielle patientdeltagere under rekruttering: koronararteriesygdom, atrieflimren, type 2-diabetes, tyktarmskræft, brystkræft, prostatakræft
Ekskluderingskriterier:
Patienter vil være udelukket, hvis de:
- Har en kendt diagnose på mindst én af de seks sygdomme af interesse
- Er yngre end 50 år eller ældre end 70 år
- er gravide
- Er fængslet eller institutionaliseret
Studieplan
Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Primært formål: Screening
- Tildeling: Randomiseret
- Interventionel model: Parallel tildeling
- Maskning: Enkelt
Våben og indgreb
Deltagergruppe / Arm |
Intervention / Behandling |
|---|---|
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Eksperimentel: Polygen risikoscore (PRS) - højrisiko stratum
Patientdeltagere i PRS-høj-armen og deres udbydere vil modtage deres høj-PRS-resultater ved baseline sammen med uddannelsesressourcer om resultaterne.
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Polygen risikoscore-rapport fra et Clinical Laboratory Improvement Amendment (CLIA)-certificeret laboratorium for koronararteriesygdom, atrieflimren, type 2-diabetes, kolorektal cancer, brystkræft (kun for kvinder) og prostatacancer (kun for mænd), leveret sammen med undervisningsmateriale på patient- og udbyderniveau.
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Aktiv komparator: Sædvanlig pleje (UC) - højrisiko stratum
Patientdeltagere i UC-højarmen og deres udbydere vil modtage deres høj-PRS-resultater efter en 24-måneders observationsperiode sammen med uddannelsesressourcer om resultaterne.
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Polygen risikoscore-rapport fra et Clinical Laboratory Improvement Amendment (CLIA)-certificeret laboratorium for koronararteriesygdom, atrieflimren, type 2-diabetes, kolorektal cancer, brystkræft (kun for kvinder) og prostatacancer (kun for mænd), leveret sammen med undervisningsmateriale på patient- og udbyderniveau.
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Eksperimentel: Polygenisk risikoscore (PRS) - gennemsnitligt risikolag
Patientdeltagere i PRS-gennemsnitsarmen og deres udbydere vil modtage deres gennemsnitlige PRS-resultater ved baseline sammen med uddannelsesressourcer om resultaterne.
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Polygen risikoscore-rapport fra et Clinical Laboratory Improvement Amendment (CLIA)-certificeret laboratorium for koronararteriesygdom, atrieflimren, type 2-diabetes, kolorektal cancer, brystkræft (kun for kvinder) og prostatacancer (kun for mænd), leveret sammen med undervisningsmateriale på patient- og udbyderniveau.
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Aktiv komparator: Sædvanlig pleje (UC) - gennemsnitligt risikolag
Patientdeltagere i den UC-gennemsnitlige arm og deres udbydere vil modtage deres gennemsnitlige PRS-resultater efter en 24-måneders observationsperiode sammen med uddannelsesressourcer om resultaterne.
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Polygen risikoscore-rapport fra et Clinical Laboratory Improvement Amendment (CLIA)-certificeret laboratorium for koronararteriesygdom, atrieflimren, type 2-diabetes, kolorektal cancer, brystkræft (kun for kvinder) og prostatacancer (kun for mænd), leveret sammen med undervisningsmateriale på patient- og udbyderniveau.
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Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Tid til ny diagnose af almindelig kompleks sygdom
Tidsramme: 24 måneder efter tilmelding
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Det primære resultat af undersøgelsen er tid til diagnose både af udiagnosticerede udbredte tilfælde af de 6 måltilstande og hændelsestilfælde i undersøgelsesperioden.
Dette sammensatte resultat vil kun omfatte klinisk signifikante diagnoser, som bedømt af ekspertens kliniske diagramgennemgang.
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24 måneder efter tilmelding
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Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Diagnostisk test
Tidsramme: 24 måneder efter tilmelding
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Eventuelle beviser for, at patient-deltageren har gennemgået yderligere diagnostisk testning for de seks målsygdomme siden indskrivningen: koronararteriesygdom (stresstest, hjerte-CT for kranspulsårecalcium (CAC), koronar angiografi), atrieflimren (EKG, hjerterytmeovervågning), type 2-diabetes (hæmoglobin A1c, blodsukker), kolorektal cancer (koloskopi, sigmoidoskopi, fækal blodprøve, CT-kolonografi), brystkræft (mammografi, bryst-MR, brystultralyd, brystbiopsi) og prostatacancer (PSA-test, prostatabiopsi) ).
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24 måneder efter tilmelding
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Patientaktivering
Tidsramme: Baseline og 24 måneder efter tilmelding
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Selvrapporteret forståelse, kompetence og villighed til at deltage i sundhedsvæsenets beslutninger og processer vurderet på basis- og slutningen af undersøgelsen, ved hjælp af den 13-element korte form af Patient Activation Measure (Hibbard, Health Services Research 2005).
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Baseline og 24 måneder efter tilmelding
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Udgifter til sundhedsydelser
Tidsramme: 24 måneder efter tilmelding
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En kombination af administrative data og tilgange til mikroomkostninger vil blive brugt til at estimere omkostningerne ved interventionen og de efterfølgende sundhedsomkostninger på patientniveau i løbet af de 24 måneder efter tilmelding.
Estimater af den nødvendige infrastruktur og personale til at levere interventionen vil blive udledt empirisk fra undersøgelsen.
Udgifter til sundhedspleje vil blive abstraheret fra fakturerings- og administrative data.
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24 måneder efter tilmelding
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Medicinoverholdelse
Tidsramme: Baseline og 24 måneder efter tilmelding
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Selvrapportering af indtagelse af medicin som ordineret vurderet på basislinje- og slutningen af undersøgelsen ved hjælp af 3-element Voils Medication Adherence Survey (Voils, Medical Care, 2012).
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Baseline og 24 måneder efter tilmelding
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Andre resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Giver viden og overbevisninger om PRS
Tidsramme: 24 måneder efter tilmelding
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Semistrukturerede interviews vil indsamle kvalitative data om deltagende udbyderes forståelse af og opfattede nytte af PRS-risikoinformationen.
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24 måneder efter tilmelding
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Blodtryk
Tidsramme: Baseline og 24 måneder efter tilmelding
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De seneste systoliske og diastoliske blodtryksværdier registreret i journalen før eller på indskrivningsdatoen og før eller på datoen 24 måneder efter indskrivningen.
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Baseline og 24 måneder efter tilmelding
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Kropsmasseindeks (BMI)
Tidsramme: Baseline og 24 måneder efter tilmelding
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De seneste BMI-værdier registreret i journalen før eller på tilmeldingsdatoen og før eller på datoen 24 måneder efter tilmelding.
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Baseline og 24 måneder efter tilmelding
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Aspirin brug
Tidsramme: Baseline og 24 måneder efter tilmelding
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Selvrapporteret brug af receptpligtig eller håndkøbs-acetylsalicylsyre vil blive vurderet på basislinje- og undersøgelsens slutundersøgelser.
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Baseline og 24 måneder efter tilmelding
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Fysisk aktivitet
Tidsramme: Baseline og 24 måneder efter tilmelding.
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Selvrapporteret fysisk vil blive vurderet på basislinje- og slutningen af undersøgelsen ved hjælp af den hurtige vurdering af fysisk aktivitet.
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Baseline og 24 måneder efter tilmelding.
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Alkoholindtag
Tidsramme: Baseline og 24 måneder efter tilmelding
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Selvrapporteret alkohol vil blive vurderet på basislinje- og slutningen af undersøgelsen ved hjælp af mål fra Behavioural Risk Factor Surveillance System, registreret som et ordinært 5-element Likert-svar (fra "Aldrig" til "Meget ofte").
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Baseline og 24 måneder efter tilmelding
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Indtagelse af forarbejdet kød
Tidsramme: Baseline og 24 måneder efter tilmelding
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Selvrapporteret indtag af forarbejdet kød vurderet på basislinje- og slutningen af undersøgelsen ved hjælp af et madfrekvensspørgsmål fra National Cancer Institute Eating Habits Questionnaire, registreret som et ordinært 5-element Likert-svar (fra "Aldrig" til "Meget ofte") .
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Baseline og 24 måneder efter tilmelding
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Low-density lipoprotein kolesterol (LDL-C)
Tidsramme: Baseline og 24 måneder efter tilmelding
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De seneste LDL-C-værdier registreret i journalen før eller på indskrivningsdatoen og før eller på datoen 24 måneder efter indskrivningen.
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Baseline og 24 måneder efter tilmelding
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Rygestatus
Tidsramme: Baseline og 24 måneder efter tilmelding
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Selvrapporteret rygestatus vil blive vurderet på basislinje- og slutningen af undersøgelsen ved hjælp af mål fra Behavioural Risk Factor Surveillance System.
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Baseline og 24 måneder efter tilmelding
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Risikoreducerende medicin ordinationer
Tidsramme: 24 måneder efter tilmelding
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Relevante receptpligtige medicinændringer i løbet af en 24-måneders observationsperiode, herunder antihypertensiva, kolesterolsænkende medicin, antikoagulantia, antiblodplademedicin, 5-alfa-reduktasehæmmere, selektive østrogenreceptormodulatorer, aromatasehæmmere, som udtaget fra journalgennemgang.
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24 måneder efter tilmelding
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Sundhedstilstand og livskvalitet
Tidsramme: Baseline og 24 måneder efter tilmelding
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Som bestemt af data indsamlet fra basisundersøgelsen (VR-12)
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Baseline og 24 måneder efter tilmelding
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Samarbejdspartnere og efterforskere
Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.
Samarbejdspartnere
Efterforskere
- Ledende efterforsker: Jason L. Vassy, MD, MPH, SM, Harvard Medical School (HMS and HSDM)
Publikationer og nyttige links
Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.
Generelle publikationer
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- Curran GM, Bauer M, Mittman B, Pyne JM, Stetler C. Effectiveness-implementation hybrid designs: combining elements of clinical effectiveness and implementation research to enhance public health impact. Med Care. 2012 Mar;50(3):217-26. doi: 10.1097/MLR.0b013e3182408812.
- Knowler WC, Barrett-Connor E, Fowler SE, Hamman RF, Lachin JM, Walker EA, Nathan DM; Diabetes Prevention Program Research Group. Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin. N Engl J Med. 2002 Feb 7;346(6):393-403. doi: 10.1056/NEJMoa012512.
- Stone NJ, Robinson JG, Lichtenstein AH, Bairey Merz CN, Blum CB, Eckel RH, Goldberg AC, Gordon D, Levy D, Lloyd-Jones DM, McBride P, Schwartz JS, Shero ST, Smith SC Jr, Watson K, Wilson PW, Eddleman KM, Jarrett NM, LaBresh K, Nevo L, Wnek J, Anderson JL, Halperin JL, Albert NM, Bozkurt B, Brindis RG, Curtis LH, DeMets D, Hochman JS, Kovacs RJ, Ohman EM, Pressler SJ, Sellke FW, Shen WK, Smith SC Jr, Tomaselli GF; American College of Cardiology/American Heart Association Task Force on Practice Guidelines. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation. 2014 Jun 24;129(25 Suppl 2):S1-45. doi: 10.1161/01.cir.0000437738.63853.7a. Epub 2013 Nov 12. No abstract available. Erratum In: Circulation. 2014 Jun 24;129(25 Suppl 2):S46-8. Circulation. 2015 Dec 22;132(25):e396.
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- Greene J, Hibbard JH. Why does patient activation matter? An examination of the relationships between patient activation and health-related outcomes. J Gen Intern Med. 2012 May;27(5):520-6. doi: 10.1007/s11606-011-1931-2.
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- Whelton PK, Carey RM, Aronow WS, Casey DE Jr, Collins KJ, Dennison Himmelfarb C, DePalma SM, Gidding S, Jamerson KA, Jones DW, MacLaughlin EJ, Muntner P, Ovbiagele B, Smith SC Jr, Spencer CC, Stafford RS, Taler SJ, Thomas RJ, Williams KA Sr, Williamson JD, Wright JT Jr. 2017 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2018 May 15;71(19):e127-e248. doi: 10.1016/j.jacc.2017.11.006. Epub 2017 Nov 13. No abstract available. Erratum In: J Am Coll Cardiol. 2018 May 15;71(19):2275-2279.
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- Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny D; MedSeq Project. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med. 2018 Dec;20(12):1544-1553. doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.
- Barnett PG. An improved set of standards for finding cost for cost-effectiveness analysis. Med Care. 2009 Jul;47(7 Suppl 1):S82-8. doi: 10.1097/MLR.0b013e31819e1f3f.
- Vassy JL, Shrader P, Yang Q, Liu T, Yesupriya A, Chang MH, Dowling NF, Ned RM, Dupuis J, Florez JC, Khoury MJ, Meigs JB. Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States. Metab Syndr Relat Disord. 2011 Dec;9(6):475-82. doi: 10.1089/met.2011.0021. Epub 2011 Aug 17.
- Vassy JL, Shrader P, Jonsson A, Fox CS, Lyssenko V, Isomaa B, Groop L, Meigs JB, Franks PW. Association between parental history of diabetes and type 2 diabetes genetic risk scores in the PPP-Botnia and Framingham Offspring Studies. Diabetes Res Clin Pract. 2011 Aug;93(2):e76-e79. doi: 10.1016/j.diabres.2011.04.013. Epub 2011 May 12.
- Vassy JL, Durant NH, Kabagambe EK, Carnethon MR, Rasmussen-Torvik LJ, Fornage M, Lewis CE, Siscovick DS, Meigs JB. A genotype risk score predicts type 2 diabetes from young adulthood: the CARDIA study. Diabetologia. 2012 Oct;55(10):2604-2612. doi: 10.1007/s00125-012-2637-7. Epub 2012 Jul 11.
- Vassy JL, Dasmahapatra P, Meigs JB, Schork NJ, Magnussen CG, Chen W, Raitakari OT, Pencina MJ, Jamal SM, Berenson GS, Goodman E. Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population. Pediatrics. 2012 Nov;130(5):e1235-42. doi: 10.1542/peds.2012-1132. Epub 2012 Oct 15.
- Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB. Polygenic type 2 diabetes prediction at the limit of common variant detection. Diabetes. 2014 Jun;63(6):2172-82. doi: 10.2337/db13-1663. Epub 2014 Feb 11. Erratum In: Diabetes. 2018 Apr 18;:
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Hjælpsomme links
- This link references a poster presentation at the annual American Medical Informatics Association (AMIA) in 2017 by authors Majahalme N, Miller SJ, Zimolzak AJ, and Vassy JL.
- This link references the National Veterans Health Equity report for FY2013, published by the VA Office of Health Equity.
- This link references the Surveillance, Epidemiology, and End Results (SEER) database from November 2017, published by the NIH.
- This link references the National Diabetes Statistics Report from 2017, published by the Centers for Disease Control and Prevention (CDC).
- This link references a book entitled "Systematic Methods for Collecting and Analyzing Multidisciplinary Team Based Qualitative Data," authored by Carey JW and Gelaude D.
- This link references a book entitled "Applied Thematic Analysis," authored by Guest GS, MacQueen KM, and Namey EE.
Datoer for undersøgelser
Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.
Studer store datoer
Studiestart (Faktiske)
17. juli 2020
Primær færdiggørelse (Forventet)
30. september 2025
Studieafslutning (Forventet)
30. september 2025
Datoer for studieregistrering
Først indsendt
31. marts 2020
Først indsendt, der opfyldte QC-kriterier
31. marts 2020
Først opslået (Faktiske)
2. april 2020
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
3. oktober 2022
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
29. september 2022
Sidst verificeret
1. september 2022
Mere information
Begreber relateret til denne undersøgelse
Nøgleord
Yderligere relevante MeSH-vilkår
- Sygdomme i fordøjelsessystemet
- Patologiske processer
- Hjertesygdomme
- Hjerte-kar-sygdomme
- Karsygdomme
- Glukosemetabolismeforstyrrelser
- Metaboliske sygdomme
- Åreforkalkning
- Arterielle okklusive sygdomme
- Neoplasmer
- Urogenitale neoplasmer
- Neoplasmer efter sted
- Sygdomme i det endokrine system
- Gastrointestinale neoplasmer
- Neoplasmer i fordøjelsessystemet
- Gastrointestinale sygdomme
- Diabetes mellitus
- Genitale neoplasmer, mandlige
- Prostatasygdomme
- Tyktarmssygdomme
- Tarmsygdomme
- Intestinale neoplasmer
- Endetarmssygdomme
- Arytmier, hjerte
- Koronararteriesygdom
- Myokardieiskæmi
- Koronar sygdom
- Diabetes mellitus, type 2
- Prostatiske neoplasmer
- Kolorektale neoplasmer
- Atrieflimren
Andre undersøgelses-id-numre
- 0594 (Andet bevillings-/finansieringsnummer: Instituto Mexicano del Seguro Social (IMSS))
Plan for individuelle deltagerdata (IPD)
Planlægger du at dele individuelle deltagerdata (IPD)?
Ja
IPD-planbeskrivelse
Vi deler de-identificerede forsøgsdata på individuelt niveau gennem et datalager, der ligger på en sikker VA-server og kun er tilgængeligt for eksterne efterforskere med Institutional Review Board (IRB).
IPD-delingstidsramme
Ved offentliggørelse af primære resultater
IPD-delingsadgangskriterier
Adgang vil være betinget af IRB-godkendelse
IPD-deling Understøttende informationstype
- Studieprotokol
- Statistisk analyseplan (SAP)
- Formular til informeret samtykke (ICF)
Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter
Studerer et amerikansk FDA-reguleret lægemiddelprodukt
Ingen
Studerer et amerikansk FDA-reguleret enhedsprodukt
Ingen
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