Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)

NCT04874909 | Completed

• 2 other identifiers: APHP200896ID-RCB Number
• Study Type: interventional
• Target: 240
• Locations: 1 country
• Sites: 1

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 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

Keywords

Ciliopathies; Pediatrics; Genetic diseases; Chronic Kidney Disease; Biomarkers

Outcome Measures

Primary Outcomes (1)

• Change in transcriptional profiles in different subtypes of ciliopathy patients and control subjects

  RNA-sequencing analysis will be utilized to identify changes in transcriptional profiles and biological pathways in subgroups of patients to research whether the target mutation gene combination analyzed by transcription group was consistent with clinical cell morphological diagnosis and disease progression. Different human models will be used: Urine-derived Renal Epithelial Cells (URECs), renal organoids from patients derived induced Pluripotent Stem Cells (iPSCs) and urines.

  3 years

Secondary Outcomes (2)

• Change in proteome profiles in different subtypes of ciliopathy patients and control subjects

  3 years

• Change in metabolome profiles in different subtypes of ciliopathy patients and control subjects

  3 years

Study Arms (4)

"Case" Patient

OTHER

Patient with ciliopathy

Other: Blood sample; Other: Urine sample

Healthy related individual

OTHER

Individual without ciliopathy but related to a patient with ciliopathy (father, mother, brother, sister)

Other: Blood sample; Other: Urine sample

"Negative Control" patient

OTHER

patient without renal disease

Other: Blood sample; Other: Urine sample

"Positive Control" patient

OTHER

patient with renal disease other that ciliopathy but with a similar renal function to the ciliopathy group ("case" patient)

Other: Blood sample; Other: Urine sample

Interventions

Urine sample OTHER

Urine sample (500 ml) once time

"Case" Patient; "Negative Control" patient; "Positive Control" patient; Healthy related individual

Blood sample OTHER

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

"Case" Patient; "Negative Control" patient; "Positive Control" patient; Healthy related individual

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• "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

You may not qualify if:

• pregnant, parturious and nursing mothers.
• with functional renal graft
• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

MeSH Terms

Conditions

Ciliopathies; Nephronophthisis, familial juvenile; Senior Loken Syndrome; Agenesis of Cerebellar Vermis; Jeune syndrome; Bardet-Biedl Syndrome; Genetic Diseases, Inborn; Renal Insufficiency, Chronic

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Retinitis Pigmentosa; Eye Diseases, Hereditary; Eye Diseases; Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Sophie SAUNIER, PhD

  Imagine Institute

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 31, 2021
• First Posted: May 6, 2021
• Study Start: November 8, 2021
• Primary Completion: October 29, 2024
• Study Completion: October 29, 2024
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)