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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

Gene therapy injection aims to save sight in rare genetic disease

Disease control Not yet recruiting

This early-stage trial tests a single injection of AXV-101 gene therapy into one eye of 12 children and teens (ages 4-17) with Bardet-Biedl syndrome type 1, a rare genetic condition that causes progressive vision loss. The main goal is to check safety and find the right dose, whi…

Phase: EARLY_PHASE1 • Sponsor: Axovia Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:02 UTC