MKS1-related ciliopathy
MONDO:1040068Any ciliopathy caused by variants in the MKS1 gene.
Also known as: MKS1-related ciliopathy
3 clinical trials for this condition and its sub-types.
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Broader categories
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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