Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) (NCT04874909) | Clinical Trial Compass
CompletedNot Applicable
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
France240 participantsStarted 2021-11-08
Plain-language summary
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.
Who can participate
SexALL
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Inclusion Criteria:
"Case" Patient :
* with nephronophthisis or ciliopathy with known genetic diagnosis or not
* signed the Informed consent form (patient or legal guardians if minor/incapable major)
* no limit of age, this patients could be recruited from the birth
* social insurance affiliation
Healthy related individual :
* related with a included patient (father, mother, brother, sister)
* signed the Informed consent form (major or legal guardians if minor/incapable major)
* no limit of age, this patients could be recruited from the birth
* social insurance affiliation
"Negative Control" patient :
* without chronic renal failure
* signed the Informed consent form (major or legal guardians if minor/incapable major)
* no limit of age, this patients could be recruited from the birth
* social insurance affiliation
"Positive Control" patient :
* with chronic renal failure not related with a ciliary dysfunction
* signed the Informed consent form (major or legal guardians if minor/incapable major)
* no limit of age, this patients could be recruited from the birth
* social insurance affiliation
Exclusion Criteria "Case" Patient :
* pregnant, parturious and nursing mothers.
* with functional renal graft
* use an experimental treatment during 30 days before inclusion date
Healthy related individual :
\- pregnant, parturious and nursing mothers.
"Negative Control" patient :
\- pregnant, parturious and nursing mothers.
"Positive Control" patient :
* pregnant, parturio…
What they're measuring
1
Change in transcriptional profiles in different subtypes of ciliopathy patients and control subjects