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

To be eligible to participate in this trial, an individual must meet all the following criteria: 1. Male or female participants aged 4 to 17 years (inclusive). 2. Able to provide written informed consent: 2.1. Parent(s)/guardian(s) prior to the initiation of any study-specific procedures for participants who are under the age of 18 2.2. Participants aged 6-17 years of age may (according to the judgement of the investigator) provide their written assent; consent will also be required from the legal guardian of the participant. 2.3. Participants aged below 6 years of age will not be required to sign an assent form; however, their views should be considered; consent will be required from the legal guardian of the participant. 3. Participant with a confirmed diagnosis of bi-allelic BBS1 mutations. Molecular diagnosis/genetic testing will have been undertaken by an accredited laboratory using an assay that has the relevant mark of conformity and is used as per its intended use. UK diagnostic genetic laboratories must conform to the Association for Clinical Genomic Science (ACGS) and adopt the ACMG guidelines for the determination of pathogenicity. US diagnostic genetic laboratories must be CLIA-approved. 4. Participants with presentation of retinal degeneration (evidence of early Rod-Cone Dystrophy, Cone-Rod Dystrophy or Night vision loss \[nyctalopia\]) 5. Participants with sufficient viable retinal cells as determined by OCT. Participants must have either: 5.1. A me…