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BBS1-related ciliopathy

MONDO:1040043

Any ciliopathy caused by variants in the BBS1 gene.

Also known as: BBS1-related ciliopathy

3 clinical trials for this condition and its sub-types.

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Sub-types

Bardet-Biedl syndrome 1 (1)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

Trials to join now! 1 Not yet recruiting 1 Completed 1

Scientists hunt for drug targets in rare kidney disorder

Knowledge-focused Recruiting now

This 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