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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    Page 1 of 1 (1 locations)

    1

    Hôpital Necker-Enfants Malades

    Paris, France, 75015