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Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
Sponsor: Assistance Publique - Hôpitaux de Paris
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.
Official title: Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
240
Start Date
2021-11-08
Completion Date
2024-10-29
Last Updated
2026-05-06
Healthy Volunteers
No
Conditions
Interventions
Blood sample
Blood sample of 15ml max by subject (case, related individual, control) once time: * subject less than 5 kg : 1.8 to 4.5 ml max * subject 5 kg to 10 kg : 4.5 to 9 ml max * subject 10 kg to 15 kg : 9 to 13.5 ml * subject 15 kg to 20 kg : 13.5 to 15 ml max
Urine sample
Urine sample (500 ml) once time
Locations (1)
Hôpital Necker-Enfants Malades
Paris, France