Skip to main content

Research Studies

Division of Otolaryngology (Ear, Nose and Throat) Research Studies

Find research studies available to children cared for by the Division of Otolaryngology (Ear, Nose and Throat) team.

Contact us

Clinical trial

Clinical Trial Phases

Recruitment Status

OTOF Hearing Loss Gene Therapy

In this gene therapy study, we will treat children with deafness caused by an abnormal gene called otoferlin (OTOF).  We will try to transfer the normal human OTOF gene into cells of the inner ear, using a modified form of a non-disease-causing virus.  This study will see if this gene therapy is safe and improves hearing. The study drug, and the device to deliver it to the ear, are investigational, meaning that they are not approved by the United States Food and Drug Administration (FDA).  This study is the first time that this study drug, and the device to deliver it, will be used in humans.
The study drug is placed into the inner ear during a surgical procedure.  Children are then monitored for about 2 years for any side effects, for any effects on the body, and for hearing improvement.  Different doses will be tested for their safety and effectiveness.  There are about 14 visits to CHOP, including one surgery visit including an overnight hospital stay.   Participants undergo follow up audiology tests monthly for 3 months, then at 6 months, then at 1 and 2 years.  This includes auditory brainstem response (ABR) testing, which may require sedation.  There are also repeated research blood tests, urine samples, physical examinations, and interviews.To be eligible, children must be age 2-17 and have profound deafness in both ears.  Children are not eligible if they have already received cochlear implants in both ears.  Once in this study, children should not undergo cochlear implantation in the treated ear, unless the treatment fails to improve hearing after a 6 month period.The main risks of this study are from the study drug and the surgery to deliver it.  These include injury to the inner ear from the drug or surgery, injury to the eardrum, risks of anesthesia for the surgery and sedation for the ABR tests, local site inflammation or infection, injury to the liver, and delay of cochlear implantation in the treated ear if the treatment does not improve hearing.  Since the study drug has never been given to humans before, it is possible there are other risks we do not know about yet.
Participants might benefit if the study drug improves their hearing.  However, it is possible they will not benefit directly from participating in this study. 

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Children

Jump back to top