Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
CiliopathiesNephronophthisis4 moreThe 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.
Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy?
Fetal Alcohol Spectrum DisorderUrine sample and exhaled Nitric Oxide will analyzed and compared between children diagnosed with Fetal Alcohol Spectrum Disorder and healthy control. Pilot study- 5 children in each group
Clinical Study of a Single Ciliopathy: Alström Syndrome
Alström Syndrome (ALMS)The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets. The investigators believe that the clinical consequences of mutations in the gene result ALMS1 unprecedented protests and the ALMS study should help to be informed, not only about the understanding and decision support other ciliopathies, but also about some common diseases, as some physiopathogenic roads could be common; the rare disease being exacerbated a model of the channel concerned. Secondarily, the clinical data generated by this project will also be used as part of basic research (eg comparison with results in animal models, use of human cells for in vitro studies or transcriptomic ....) (which will be a secondary upgrading to this work).
Clinical and Molecular Investigations Into Ciliopathies
CiliopathyThis study will evaluate patients ciliopathies. People with ciliopathies develop fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments.