Clinical Research Directory

First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration

The goal of this first in human study is to evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1. The main questions it aims to answer are: * Is AXV-101 safe and tolerable to use in participants with BBS1? * To determine the therapeutic dose of AXV-101 in participants with BBS1 * To investigate the concentration of AXV-101 in blood, urine and tears (both eyes) Participants will undergo comprehensive ophthalmic assessments to evaluate functional and structural changes from baseline to one year in the treated eye compared with the untreated eye. Additional evaluations will include blood, urine, and tear testing for safety and pharmacokinetics, and quality of life questionnaires completed by both participants and caregivers. Safety will also be assessed by monitoring the frequency and severity of adverse events, including serious adverse events, through medical history, physical examinations, and laboratory testing.