Status:
UNKNOWN
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Ciliopathies
Nephronophthisis
Eligibility:
All Genders
Phase:
NA
Brief 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 d...
Detailed Description
Ciliopathies are a large group of rare and severe genetic diseases caused by ciliary dysfunction, in which nearly all organs can be affected. In spite of being individually rare, they affect collectiv...
Eligibility Criteria
Inclusion
- 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
Exclusion
Key Trial Info
Start Date :
November 8 2021
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
November 1 2024
Estimated Enrollment :
240 Patients enrolled
Trial Details
Trial ID
NCT04874909
Start Date
November 8 2021
End Date
November 1 2024
Last Update
October 31 2022
Active Locations (1)
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1
Hôpital Necker-Enfants Malades
Paris, France, 75015