CompletedNot Applicable

Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)

France240 participantsStarted 2021-11-08

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: "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 "Positive Control" patient : * with chronic renal failure not related with a ciliary dysfunction * 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 Exclusion Criteria "Case" Patient : * pregnant, parturious and nursing mothers. * with functional renal graft * use an experimental treatment during 30 days before inclusion date Healthy related individual : \- pregnant, parturious and nursing mothers. "Negative Control" patient : \- pregnant, parturious and nursing mothers. "Positive Control" patient : * pregnant, parturio…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: 3 years

Trial details

NCT IDNCT04874909

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-10-29

View on ClinicalTrials.gov More Ciliopathies trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.