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Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Bu araştırma, nefronoftizi (nephronophthisis) ve böbrekle ilişkili siliyopatiler (renal associated ciliopathies) adı verilen kalıtsal böbrek hastalıklarında olası tedavi hedeflerini incelemeyi amaçlamaktadır. Bu hastalıklara sahip her yaştan hastalar ile sağlıklı yakınları ve kontrol grubu katılımcıları dahil edilebilmektedir. Çalışma faz uygulanmayan bir araştırma olup halen katılımcı almaktadır.
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
Inclusion Criteria: * In order to be included in the protocol, subjects will have to respect the following criteria: Affected patients: Suffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent(s) or legal representative No age limit is requested for these patients, who can be recruited from birth. Healthy relatives: Being the healthy relative (father / mother / brother / sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth. 'Negative' control patients: Being unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth. 'Positive' control patients Suffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth. Exclusion Criteria: In order to be included in the protocol, subjects will have to fulfill none of the following criteria: Affected patients: Patients with a functioning kidney transplant (only for patient for who urine sample is performed. This criteria is not applicable when only blood is sampling) Patients included in a therapeutic protocol since fewer 30 days. Healthy relatives: No no-inclusion criteria 'Negative' control subjects: No no-inclusion criteria 'Positive' control subjects: Patients with a functioning kidney transplant