First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
Trial statusRecruiting
Trial phaseEarly Phase 1
Trial typeInterventional
Biological sexAll
Age4-17
SponsorAxovia Therapeutics
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Male or female participants aged 4 to 17 years (inclusive).
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.
Participants with presentation of retinal degeneration (evidence of early Rod-Cone Dystrophy, Cone-Rod Dystrophy or Night vision loss [nyctalopia])
Post-pubertal male participants and female participants of childbearing potential must be willing to comply with the contraceptive requirements
Disqualifiers
None
Trial design
Design model
Parallel
Treatments tested in this trial
AXV-101
GeneticThis is a gene therapy named AXV-101, being injected into the eye in participants with BBS1 bi-allelic mutations and retinal degeneration. The treated eye will be compared with the eye not injected with AXV-101.
Treatment groups
12 Participants
are divided into 2 treatment groupsGroup A: Cohort 1Experimental treatment 1 intervention
Group B: Cohort 2Experimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
To evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1
Evaluation will be via frequency and severity of all adverse events (AEs) including serious adverse events (SAEs) and their relationship to AXV-101 throughout the study (5 years)
Time frame
Through study completion, 5 yearsSecondary outcomes
1
To determine the therapeutic dose of AXV-101 in young participants with BBS1
Time frame
Change from baseline through 1 year2
To investigate the concentration of AXV-101 in blood, urine and tears (both eyes)
Time frame
From screening to Day 35Sponsors and contacts
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Source ClinicalTrials.gov