Deafness bilateral Trials in Disease

Study on SENS-501 for Children with Severe Hearing Loss Due to Otoferlin Gene Mutations

This clinical trial is investigating a promising new gene therapy approach for young children with severe to profound hearing loss. The study is specifically designed for children whose hearing loss is caused by mutations in a gene called Otoferlin, which produces a protein essential for normal hearing function. When this gene doesn't work properly, the hair cells in the inner ear cannot effectively transmit sound signals to the brain.

Main inclusion criteria:

• Children between 6 and 31 months of age
• Severe to profound hearing loss confirmed by Auditory Brainstem Response testing
• Confirmed mutations in both copies of the Otoferlin gene
• Presence of Otoacoustic Emissions, indicating the inner ear is still producing sounds
• Normal structure of the cochlea and internal auditory canals
• Normal balance system function

Main exclusion criteria:

• Other ear conditions that could affect hearing
• Previous ear surgeries that might interfere with the study
• History of allergies to medications used in the study
• Current participation in another clinical trial
• Serious health conditions that could affect study participation
• Inability to follow study procedures

Focus and goal: The primary purpose of this study is to evaluate the safety and effectiveness of SENS-501, a gene therapy treatment. The investigational treatment is delivered as a single injection directly into the cochlea of one ear. The study is divided into two parts: the first part focuses on assessing whether the treatment is safe and well-tolerated by children, while the second part examines whether the treatment can effectively improve hearing ability. Researchers will monitor participants for any side effects and measure changes in hearing using specialized tests such as Auditory Brainstem Response and Pure Tone Audiometry. The study will also evaluate the performance of the delivery devices used to administer the treatment.

Investigational drug: SENS-501 is a gene therapy designed to address the root cause of hearing loss in these children. It works by delivering genetic material directly into the inner ear to help produce the otoferlin protein that is missing or not functioning properly. This approach aims to restore the ability of inner ear hair cells to transmit sound signals effectively. The treatment is administered through a specialized injection system involving devices called the SPHYNX Pump and Intracochlear Catheter, which deliver the therapy precisely to the cochlea.

The trial is being conducted in Italy, France, and Germany, with recruitment that began at the end of 2023 and is expected to continue gathering data until the end of 2030. Throughout the study period, children will receive regular follow-up visits to monitor their hearing progress and overall health.

Summary

Currently, there is one active clinical trial addressing bilateral deafness caused by genetic factors. This study represents an innovative approach using gene therapy to treat a specific type of inherited hearing loss in young children. The trial is notable for its focus on a very young patient population, ranging from 6 to 31 months old, which represents a critical window for hearing development. The international scope of the study, spanning three European countries, may help ensure diverse patient recruitment and broader applicability of results. The trial's design, which includes both safety and efficacy assessments, reflects a careful, phased approach to evaluating this novel gene therapy treatment. The extended timeline through 2030 will allow researchers to gather long-term data on the treatment's effects and durability.