First Human Study to Test Safety and Dose of AXV-101 Gene Therapy in Children With Bardet-Biedl Syndrome 1 and Retinal Degeneration

What this Trial Is About

Researchers are evaluating the preliminary safety and tolerability of AXV-101, a gene therapy, in children and adolescents aged 4 to 17 years with Bardet-Biedl Syndrome 1 BBS1 and retinal degeneration. This first-in-human, early phase 1 trial aims to determine the therapeutic dose of AXV-101 and study its presence in blood, urine, and tears. Participants will undergo comprehensive eye assessments to compare changes between the treated and untreated eyes over one year. Participants will be assigned to one of two groups receiving different doses of AXV-101 injected into one eye. Cohort 1 will receive a minimally effective dose, while Cohort 2 will receive a higher therapeutic dose. Safety data will be reviewed by an independent committee before moving to the next group. The study includes monitoring of AXV-101 concentrations in various body fluids during the first 35 days. During the study, participants will have detailed eye exams, blood, urine, and tear tests, along with quality of life questionnaires completed by both participants and caregivers. Safety assessments include tracking adverse events through medical history, physical exams, and lab tests. The main safety evaluation will continue through study completion up to five years. The study is planned to run from mid-2026 to early 2032.

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