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Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)

NCT04874909 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 240

Last updated 2026-05-06

No results posted yet for this study

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.

Conditions

  • Ciliopathies
  • Nephronophthisis
  • Senior-Loken Syndrome
  • Joubert Syndrome
  • Jeune Syndrome
  • Bardet-Biedl Syndrome

Interventions

OTHER

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

OTHER

Urine sample

Urine sample (500 ml) once time

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Sophie SAUNIER, PhD · Imagine Institute

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-11-08
Primary Completion
2024-10-29
Completion
2024-10-29

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04874909 on ClinicalTrials.gov