Nephronophthisis
MONDO:0019005Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
Also known as: medullary cystic kidney, nephronophthisis, nephronophthisis (disease)
5 clinical trials for this condition and its sub-types.
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Broader categories
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Could a diabetes drug protect kidneys in children with genetic disease?
Disease control Recruiting nowThis study tests whether adding dapagliflozin (a diabetes drug) to standard care reduces protein leakage in the urine of children with hereditary kidney diseases. About 44 children will receive either dapagliflozin plus standard care or standard care alone for 12 weeks, then swit…
Phase: PHASE3 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control
Last updated Jul 08, 2026 00:00 UTC
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New registry aims to unlock secrets of rare Kidney-Liver diseases
Knowledge-focused Recruiting nowThis study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Scientists hunt for drug targets in rare kidney disorder
Knowledge-focused Recruiting nowThis study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…
Phase: NA • Sponsor: Imagine Institute • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:13 UTC