DFNB1A, GJB2 Gene Mutation, GJB2-mediated Hearing Loss
Conditions
Keywords
GJB2, Hearing Loss, Bilateral, Hearing Loss, Hearing Loss, Sensorineural, Deafness, Autosomal Recessive 1A (DFNB1A), Connexin 26
Brief summary
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in the GJB2 gene (also referred to as Connexin 26). The SKY-CAT is a device that delivers the gene therapy. The purpose of this study is to: Learn about the safety and tolerability (does not cause ongoing discomfort) of SKY-GJB2 Evaluate the efficacy of SKY-GJB2 (how well is works)
Interventions
COMBINATION_PRODUCTSKY-GJB2
SKY-GJB2 is intended to be administered via a one-time unilateral intracochlear infusion using the SKY-CAT delivery device.
Sponsors
Skylark Bio Inc.
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
9 Months to 7 Years
Healthy volunteers
No
Inclusion criteria
* Male or female aged 9 months to 7 years at the time of gene therapy administration * Subjects must have at least two (biallelic) pathogenic or likely pathogenic variants in the GJB2 gene * Bilateral sensorineural hearing loss as assessed by ABR. Hearing loss at ≥85 dB HL for at least one of the frequencies (500-4000 Hz) in the study treatment ear. * Subject's parent(s)/guardian(s) provide informed consent before the initiation of study-related procedures. * Subject is able and willing to comply (or provide assent if old enough) will all study requirements.
Exclusion criteria
* Subject has non-GJB2 mediated hearing loss including genetic, syndromic, or non-syndromic hearing loss that is not associated with GJB2 mutations. * Subject has autosomal dominant nonsyndromic hearing loss due to GJB2 mutation. * No response on ABR testing. * Bilateral Cochlear Implants.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety/Frequency of Adverse Events (AEs) | Through trial completion, approximately one year | AEs as it relates to the the gene therapy (SKY-GJB2) and/or to the administration procedure (including the delivery device system (SKY-CAT)) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Auditory Brainstem Response (ABR) Threshold | Through trial completion, approximately one year | Changes from baseline in ABR intensity threshold (measured in decibels (dB HL)) |
| Performance of the SKY-CAT delivery device | One month post-op | Looking at safety and effectiveness of the device in delivering the gene therapy. |
Countries
United States
Outcome results
None listed