ID

44975

Beschrijving

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)

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000018

Trefwoorden

Versies (5)
  1. 12-05-22 12-05-22 - Martin Dugas
  2. 12-05-22 12-05-22 - Martin Dugas
  3. 20-05-22 20-05-22 - Dr. Christian Niklas
  4. 03-06-22 03-06-22 - Dr. Christian Niklas
  5. 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten

J.H. Warram, Joslin Diabetes Center, Boston, MA, USA

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3 juni 2022

DOI

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Creative Commons BY-NC 4.0
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dbGaP phs000018 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN

Engels

Eligibility Criteria

6 Formulieren  
Inclusion and exclusion criteria
Beschrijving

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [2,1]
C0680251
*Inclusion criteria*
Beschrijving

Elig.phs000018.v2.p1.1

Datatype

boolean

Alias
UMLS CUI [1,1]
C1512693
Probands for this data collection must have type 1 diabetes and either presence or absence of diabetic nephropathy according to the following definitions: Type 1 diabetes is diagnosed if:
Beschrijving

Elig.phs000018.v2.p1.2

Datatype

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0011849
UMLS CUI [1,3]
C0441729
UMLS CUI [1,4]
C0011881
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0011849
UMLS CUI [2,3]
C0441729
UMLS CUI [2,4]
C0332288
UMLS CUI [2,5]
C0011881
Subject had diabetes diagnosed before age 31
Beschrijving

Elig.phs000018.v2.p1.3

Datatype

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C1828181
Treatment with insulin was instituted within one year of diagnosis
Beschrijving

Elig.phs000018.v2.p1.4

Datatype

boolean

Alias
UMLS CUI [1,1]
C0332162
UMLS CUI [1,2]
C0745343
UMLS CUI [1,3]
C4082117
UMLS CUI [1,4]
C0687676
UMLS CUI [1,5]
C0011849
Treatment with insulin has been uninterrupted since diagnosis Presence of diabetic nephropathy is diagnosed if:
Beschrijving

Elig.phs000018.v2.p1.5

Datatype

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0745343
UMLS CUI [1,3]
C3843614
UMLS CUI [1,4]
C1711239
UMLS CUI [1,5]
C0011900
Subject with diabetes for at least 10 years has persistent proteinuria or ESRD (not due to condition other than diabetes). Persistent proteinuria is defined as at least 2 of 3 tests positive for albuminuria (at least 1 month apart), i.e., dipstick (Albustix or Multistix) at least 1+ or ACR value exceeding 300 μg albumin/mg of urine creatinine. Absence of diabetic nephropathy is diagnosed if:
Beschrijving

Elig.phs000018.v2.p1.6

Datatype

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C3844145
UMLS CUI [1,3]
C0033687
UMLS CUI [1,4]
C0205322
UMLS CUI [2,1]
C0011849
UMLS CUI [2,2]
C3844145
UMLS CUI [2,3]
C0022661
Subject has persistent normoalbuminuria despite duration of type 1 diabetes for at least 15 years and has never been treated with ACE inhibitors. Persistent normoalbuminuria is defined as at least 2 of 3 ACR measurements (at least 1 month apart) in random urine specimen being less than 20 μg of albumin/mg of creatinine. If 3 ACR measurements are needed, the highest must also be less than 40 μg of albumin/mg of creatinine.
Beschrijving

Elig.phs000018.v2.p1.7

Datatype

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0441729
UMLS CUI [1,3]
C1948053
UMLS CUI [1,4]
C5230927
UMLS CUI [1,5]
C2003901
UMLS CUI [1,6]
C0332293
UMLS CUI [1,7]
C0003015
*Exclusion criteria*
Beschrijving

Elig.phs000018.v2.p1.8

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
Individuals will be excluded from the study if they do not meet the inclusion criteria described above or if any of the following exclusion criteria are met: Unable or unwilling to give informed consent
Beschrijving

Elig.phs000018.v2.p1.9

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0021430
UMLS CUI [1,3]
C1299582
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0021430
UMLS CUI [2,3]
C0558080
Unable to communicate with staff
Beschrijving

Elig.phs000018.v2.p1.10

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0566000
Major psychiatric disorder such as schizophrenia
Beschrijving

Elig.phs000018.v2.p1.11

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0004936
UMLS CUI [1,3]
C0205164
Exclusion in relation to medication
Beschrijving

Elig.phs000018.v2.p1.12

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0013227
Any antihypertensive medication for controls
Beschrijving

Elig.phs000018.v2.p1.13

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C3274648
UMLS CUI [1,3]
C0003364
Infectious disease
Beschrijving

Elig.phs000018.v2.p1.14

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0009450
Self-reported HIV positivity
Beschrijving

Elig.phs000018.v2.p1.15

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0019693
Active tuberculosis
Beschrijving

Elig.phs000018.v2.p1.16

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0151332
Other kidney disease in cases
Beschrijving

Elig.phs000018.v2.p1.17

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C3274647
UMLS CUI [1,3]
C0022658
UMLS CUI [1,4]
C0205394
Alport syndrome
Beschrijving

Elig.phs000018.v2.p1.18

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1567741
Analgesic nephropathy
Beschrijving

Elig.phs000018.v2.p1.19

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0149938
Atheroembolic renal disease
Beschrijving

Elig.phs000018.v2.p1.20

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0268792
Congenital nephrotic syndrome
Beschrijving

Elig.phs000018.v2.p1.21

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C3501848
Focal segmental glomerulosclerosis (FSGS)
Beschrijving

Elig.phs000018.v2.p1.22

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0017668
Glomerulonephritis
Beschrijving

Elig.phs000018.v2.p1.23

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0017658
Goodpasture's syndrome
Beschrijving

Elig.phs000018.v2.p1.24

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0403529
HIV nephropathy
Beschrijving

Elig.phs000018.v2.p1.25

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0078911
IgM mesangial proliferative nephritis
Beschrijving

Elig.phs000018.v2.p1.26

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0221238
UMLS CUI [1,3]
C0020861
Lupus nephritis
Beschrijving

Elig.phs000018.v2.p1.27

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0024143
Kidney cancer
Beschrijving

Elig.phs000018.v2.p1.28

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0740457
IgA nephropathy
Beschrijving

Elig.phs000018.v2.p1.29

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0017661
Polycystic kidney disease
Beschrijving

Elig.phs000018.v2.p1.30

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0022680
Urinary tract infection (Note: infectious processes such as cystitis and urinary tract infections do not represent a permanent exclusion. Patients may be recontacted or asked to send a supplemental urine sample at a later date.)
Beschrijving

Elig.phs000018.v2.p1.31

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0042029
Pregnant women (although they may be reconsidered 3 months after delivery)
Beschrijving

Elig.phs000018.v2.p1.32

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0032961
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Similar models

Eligibility Criteria

6 Formulieren
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [2,1])
Elig.phs000018.v2.p1.1
Item
*Inclusion criteria*
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000018.v2.p1.2
Item
Probands for this data collection must have type 1 diabetes and either presence or absence of diabetic nephropathy according to the following definitions: Type 1 diabetes is diagnosed if:
boolean
C1512693 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0441729 (UMLS CUI [1,3])
C0011881 (UMLS CUI [1,4])
C1512693 (UMLS CUI [2,1])
C0011849 (UMLS CUI [2,2])
C0441729 (UMLS CUI [2,3])
C0332288 (UMLS CUI [2,4])
C0011881 (UMLS CUI [2,5])
Elig.phs000018.v2.p1.3
Item
Subject had diabetes diagnosed before age 31
boolean
C0011849 (UMLS CUI [1,1])
C1828181 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.4
Item
Treatment with insulin was instituted within one year of diagnosis
boolean
C0332162 (UMLS CUI [1,1])
C0745343 (UMLS CUI [1,2])
C4082117 (UMLS CUI [1,3])
C0687676 (UMLS CUI [1,4])
C0011849 (UMLS CUI [1,5])
Elig.phs000018.v2.p1.5
Item
Treatment with insulin has been uninterrupted since diagnosis Presence of diabetic nephropathy is diagnosed if:
boolean
C0011849 (UMLS CUI [1,1])
C0745343 (UMLS CUI [1,2])
C3843614 (UMLS CUI [1,3])
C1711239 (UMLS CUI [1,4])
C0011900 (UMLS CUI [1,5])
Elig.phs000018.v2.p1.6
Item
Subject with diabetes for at least 10 years has persistent proteinuria or ESRD (not due to condition other than diabetes). Persistent proteinuria is defined as at least 2 of 3 tests positive for albuminuria (at least 1 month apart), i.e., dipstick (Albustix or Multistix) at least 1+ or ACR value exceeding 300 μg albumin/mg of urine creatinine. Absence of diabetic nephropathy is diagnosed if:
boolean
C0011849 (UMLS CUI [1,1])
C3844145 (UMLS CUI [1,2])
C0033687 (UMLS CUI [1,3])
C0205322 (UMLS CUI [1,4])
C0011849 (UMLS CUI [2,1])
C3844145 (UMLS CUI [2,2])
C0022661 (UMLS CUI [2,3])
Elig.phs000018.v2.p1.7
Item
Subject has persistent normoalbuminuria despite duration of type 1 diabetes for at least 15 years and has never been treated with ACE inhibitors. Persistent normoalbuminuria is defined as at least 2 of 3 ACR measurements (at least 1 month apart) in random urine specimen being less than 20 μg of albumin/mg of creatinine. If 3 ACR measurements are needed, the highest must also be less than 40 μg of albumin/mg of creatinine.
boolean
C0011849 (UMLS CUI [1,1])
C0441729 (UMLS CUI [1,2])
C1948053 (UMLS CUI [1,3])
C5230927 (UMLS CUI [1,4])
C2003901 (UMLS CUI [1,5])
C0332293 (UMLS CUI [1,6])
C0003015 (UMLS CUI [1,7])
Elig.phs000018.v2.p1.8
Item
*Exclusion criteria*
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000018.v2.p1.9
Item
Individuals will be excluded from the study if they do not meet the inclusion criteria described above or if any of the following exclusion criteria are met: Unable or unwilling to give informed consent
boolean
C0680251 (UMLS CUI [1,1])
C0021430 (UMLS CUI [1,2])
C1299582 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0021430 (UMLS CUI [2,2])
C0558080 (UMLS CUI [2,3])
Elig.phs000018.v2.p1.10
Item
Unable to communicate with staff
boolean
C0680251 (UMLS CUI [1,1])
C0566000 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.11
Item
Major psychiatric disorder such as schizophrenia
boolean
C0680251 (UMLS CUI [1,1])
C0004936 (UMLS CUI [1,2])
C0205164 (UMLS CUI [1,3])
Elig.phs000018.v2.p1.12
Item
Exclusion in relation to medication
boolean
C0680251 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.13
Item
Any antihypertensive medication for controls
boolean
C0680251 (UMLS CUI [1,1])
C3274648 (UMLS CUI [1,2])
C0003364 (UMLS CUI [1,3])
Elig.phs000018.v2.p1.14
Item
Infectious disease
boolean
C0680251 (UMLS CUI [1,1])
C0009450 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.15
Item
Self-reported HIV positivity
boolean
C0680251 (UMLS CUI [1,1])
C0019693 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.16
Item
Active tuberculosis
boolean
C0680251 (UMLS CUI [1,1])
C0151332 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.17
Item
Other kidney disease in cases
boolean
C0680251 (UMLS CUI [1,1])
C3274647 (UMLS CUI [1,2])
C0022658 (UMLS CUI [1,3])
C0205394 (UMLS CUI [1,4])
Elig.phs000018.v2.p1.18
Item
Alport syndrome
boolean
C0680251 (UMLS CUI [1,1])
C1567741 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.19
Item
Analgesic nephropathy
boolean
C0680251 (UMLS CUI [1,1])
C0149938 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.20
Item
Atheroembolic renal disease
boolean
C0680251 (UMLS CUI [1,1])
C0268792 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.21
Item
Congenital nephrotic syndrome
boolean
C0680251 (UMLS CUI [1,1])
C3501848 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.22
Item
Focal segmental glomerulosclerosis (FSGS)
boolean
C0680251 (UMLS CUI [1,1])
C0017668 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.23
Item
Glomerulonephritis
boolean
C0680251 (UMLS CUI [1,1])
C0017658 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.24
Item
Goodpasture's syndrome
boolean
C0680251 (UMLS CUI [1,1])
C0403529 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.25
Item
HIV nephropathy
boolean
C0680251 (UMLS CUI [1,1])
C0078911 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.26
Item
IgM mesangial proliferative nephritis
boolean
C0680251 (UMLS CUI [1,1])
C0221238 (UMLS CUI [1,2])
C0020861 (UMLS CUI [1,3])
Elig.phs000018.v2.p1.27
Item
Lupus nephritis
boolean
C0680251 (UMLS CUI [1,1])
C0024143 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.28
Item
Kidney cancer
boolean
C0680251 (UMLS CUI [1,1])
C0740457 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.29
Item
IgA nephropathy
boolean
C0680251 (UMLS CUI [1,1])
C0017661 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.30
Item
Polycystic kidney disease
boolean
C0680251 (UMLS CUI [1,1])
C0022680 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.31
Item
Urinary tract infection (Note: infectious processes such as cystitis and urinary tract infections do not represent a permanent exclusion. Patients may be recontacted or asked to send a supplemental urine sample at a later date.)
boolean
C0680251 (UMLS CUI [1,1])
C0042029 (UMLS CUI [1,2])
Elig.phs000018.v2.p1.32
Item
Pregnant women (although they may be reconsidered 3 months after delivery)
boolean
C0680251 (UMLS CUI [1,1])
C0032961 (UMLS CUI [1,2])
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