Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) (CILLICORIRCM)
Ciliopathies, Nephronophthisis, Senior-Loken Syndrome
About this trial
This is an interventional diagnostic trial for Ciliopathies focused on measuring Ciliopathies, Pediatrics, Genetic diseases, Chronic Kidney Disease, Biomarkers
Eligibility Criteria
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, parturious and nursing mothers.
- with functional renal graft
- use an experimental treatment during 30 days before inclusion date
Sites / Locations
- Hôpital Necker-Enfants MaladesRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Other
Other
Other
Other
"Case" Patient
Healthy related individual
"Negative Control" patient
"Positive Control" patient
Patient with ciliopathy
Individual without ciliopathy but related to a patient with ciliopathy (father, mother, brother, sister)
patient without renal disease
patient with renal disease other that ciliopathy but with a similar renal function to the ciliopathy group ("case" patient)