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Bardet-Biedl syndrome 1

MONDO:0008854

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.

Also known as: BBS1, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1, modifier of, Bardet-Biedl syndrome type 1

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Syndromic disease (25) Human disease (14) Bardet-Biedl syndrome (6) Autosomal recessive disease (4) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)

Trials to join now! 1

Gene therapy injection aims to save sight in rare genetic disease

Disease control Recruiting now

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 Aug 06, 2026 00:00 UTC