Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 collectively up to one per 2000 people. Over the past two decades, more than 90 genes have been reported as mutated in ciliopathy patients. Most proteins encoded by these genes play key roles in the biogenesis or function of cilia, in which they define different functional subdomains. Genetic analyses of ciliopathies revealed a vast clinical variability and a broad genetic heterogeneity as: 1) mutations of the same disease-causing gene can result in distinct clinical entities and, conversely, 2) mutations in several independent genes can lead to similar clinical features, implying both phenotypic and genetic overlaps. The extent and severity of organ involvement may be correlated in part with the nature or location of the mutational event, the cell/tissue specific expression and effect of the mutated protein on cilia dysfunction. Renal involvement is one of the most frequent manifestations in ciliopathies, and it leads to excessive morbidity and mortality. This includes renal cystic dysplasia (RCD), a kidney developmental defect, and nephronophthisis (NPHP), a chronic tubulointerstitial nephritis, both disorders representing frequent causes of end-stage renal disease (ESRD) during childhood to early adulthood. This makes ESRD a terminal endpoint of either isolated or syndromic ciliopathies, with, hitherto, no available curative treatment of chronic kidney disease whatsoever. The only bearable option is renal transplantation. As the average life-span of a functioning kidney transplant is about 10-15 years, it is urgent to identify therapeutic solutions that slow down progression of CKD in ciliopathies, and delay or avoid dialysis or transplantation. Today, the diagnosis of ciliopathies is first based on primary clinical manifestations, and then confirmed by gene mutation identification. However, even in patients with identified causative mutations, it is impossible to predict the severity of the disease, the risk of appearance (if not present at diagnosis), and/or the rate of progression of CKD. Thus, a crucial issue in the field of ciliopathies is to be able to perform early detection of at-risk patients prior to development of CKD as well as to predict disease progression rate. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT04874909
Study type Interventional
Source Assistance Publique - Hôpitaux de Paris
Contact Stanislas LYONNET, MD, PhD
Phone (33) 1 42 75 49 96
Email stanislas.lyonnet@aphp.fr
Status Recruiting
Phase N/A
Start date November 8, 2021
Completion date November 2024

See also
  Status Clinical Trial Phase
Recruiting NCT02435940 - Inherited Retinal Degenerative Disease Registry
Recruiting NCT02329210 - Clinical Registry Investigating Bardet-Biedl Syndrome
Completed NCT00213811 - Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults N/A
Recruiting NCT04461444 - COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study N/A
Recruiting NCT06239064 - Early Genetic Identification of Obesity
Terminated NCT00078091 - Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
Completed NCT04966741 - Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity Phase 3
Enrolling by invitation NCT05400278 - Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Completed NCT05194124 - Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Patients With Specific Gene Defects in the MC4R Pathway Phase 3
Withdrawn NCT03490019 - Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Phase 2