ID

31679

Descrição

Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD; ODM derived from: https://clinicaltrials.gov/show/NCT02112136 Sponsor: University Hospital, Brest Information provided by (Responsible Party): University Hospital, Brest Principal Investigator: Emilie Cornec-Le Gall, MD CHRU de Brest

Link

https://clinicaltrials.gov/show/NCT02112136

Palavras-chave

  1. 19/09/2018 19/09/2018 -
  2. 20/09/2018 20/09/2018 -
Titular dos direitos

University Hospital, Brest

Transferido a

20 de setembro de 2018

DOI

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Licença

Creative Commons BY-NC 3.0

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Eligibility Autosomal Dominant Polycystic Kidney Disease (ADPKD) NCT02112136

Eligibility Autosomal Dominant Polycystic Kidney Disease (ADPKD) NCT02112136

Inclusion Criteria for the Probands
Descrição

Inclusion Criteria for the Probands

Alias
UMLS CUI-1
C1512693
patients with a diagnosis of adpkd
Descrição

Diagnosis of adpkd

Tipo de dados

boolean

Alias
UMLS CUI [1]
C0085413
written informed consent
Descrição

Informed consent

Tipo de dados

boolean

Alias
UMLS CUI [1]
C0021430
affiliated or benefiting from a national insurance
Descrição

Nationally health insured

Tipo de dados

boolean

Alias
UMLS CUI [1]
C0027452
inclusion criteria of the relatives (affected or non affected) :
Descrição

inclusion criteria of the relatives (affected or non affected) :

Alias
UMLS CUI-1
C1512693
UMLS CUI-2
C0080103
relatives with a diagnosis of adpkd (adpkd relatives)
Descrição

Relatives with a diagnosis of adpkd

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C0085413
UMLS CUI [1,2]
C0080103
and relatives over age 30 for whom the diagnosis of adpkd has been discarded (non adpkd relatives) with renal ultrasonography performed after age 30.
Descrição

Relatives over age 30 for whom the diagnosis of adpkd has been discarded with renal ultrasonography performed after age 30

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C0080103
UMLS CUI [1,2]
C0001779
UMLS CUI [2,1]
C0080103
UMLS CUI [2,2]
C1277606
UMLS CUI [2,3]
C0085413
UMLS CUI [2,4]
C0203408
written informed consent
Descrição

Informed consent

Tipo de dados

boolean

Alias
UMLS CUI [1]
C0021430
affiliated or benefiting from a national insurance
Descrição

Nationally health insured

Tipo de dados

boolean

Alias
UMLS CUI [1]
C0027452
exclusion criteria for the probands:
Descrição

exclusion criteria for the probands:

Alias
UMLS CUI-1
C0680251
subjects unable to provide written informed consent
Descrição

Inability to provide written informed consent

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1299582
previous molecular analysis of pkd1 and pkd2 genes with identification of the pathogenic mutation
Descrição

Finding of pathogenic mutation in pkd1 and pkd2

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C1418599
UMLS CUI [1,2]
C0596611
UMLS CUI [2,1]
C0596611
UMLS CUI [2,2]
C1418600
exclusion criteria for the relatives:
Descrição

exclusion criteria for the relatives:

Alias
UMLS CUI-1
C0680251
UMLS CUI-2
C0080103
subjects unable to provide written informed consent
Descrição

Inability to provide written informed consent

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1299582
age under 30 for the "non-affected" relatives
Descrição

Age under 30 for the

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0080103
UMLS CUI [2,1]
C0080103
UMLS CUI [2,2]
C0085413
UMLS CUI [2,3]
C1277606

Similar models

Eligibility Autosomal Dominant Polycystic Kidney Disease (ADPKD) NCT02112136

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
Inclusion Criteria for the Probands
C1512693 (UMLS CUI-1)
Diagnosis of adpkd
Item
patients with a diagnosis of adpkd
boolean
C0085413 (UMLS CUI [1])
Informed consent
Item
written informed consent
boolean
C0021430 (UMLS CUI [1])
Nationally health insured
Item
affiliated or benefiting from a national insurance
boolean
C0027452 (UMLS CUI [1])
Item Group
inclusion criteria of the relatives (affected or non affected) :
C1512693 (UMLS CUI-1)
C0080103 (UMLS CUI-2)
Relatives with a diagnosis of adpkd
Item
relatives with a diagnosis of adpkd (adpkd relatives)
boolean
C0085413 (UMLS CUI [1,1])
C0080103 (UMLS CUI [1,2])
Relatives over age 30 for whom the diagnosis of adpkd has been discarded with renal ultrasonography performed after age 30
Item
and relatives over age 30 for whom the diagnosis of adpkd has been discarded (non adpkd relatives) with renal ultrasonography performed after age 30.
boolean
C0080103 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C0080103 (UMLS CUI [2,1])
C1277606 (UMLS CUI [2,2])
C0085413 (UMLS CUI [2,3])
C0203408 (UMLS CUI [2,4])
Informed consent
Item
written informed consent
boolean
C0021430 (UMLS CUI [1])
Nationally health insured
Item
affiliated or benefiting from a national insurance
boolean
C0027452 (UMLS CUI [1])
Item Group
exclusion criteria for the probands:
C0680251 (UMLS CUI-1)
Inability to provide written informed consent
Item
subjects unable to provide written informed consent
boolean
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
Finding of pathogenic mutation in pkd1 and pkd2
Item
previous molecular analysis of pkd1 and pkd2 genes with identification of the pathogenic mutation
boolean
C1418599 (UMLS CUI [1,1])
C0596611 (UMLS CUI [1,2])
C0596611 (UMLS CUI [2,1])
C1418600 (UMLS CUI [2,2])
Item Group
exclusion criteria for the relatives:
C0680251 (UMLS CUI-1)
C0080103 (UMLS CUI-2)
Inability to provide written informed consent
Item
subjects unable to provide written informed consent
boolean
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
Age under 30 for the
Item
age under 30 for the "non-affected" relatives
boolean
C0001779 (UMLS CUI [1,1])
C0080103 (UMLS CUI [1,2])
C0080103 (UMLS CUI [2,1])
C0085413 (UMLS CUI [2,2])
C1277606 (UMLS CUI [2,3])

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