A team of researchers from the esteemed Children’s Hospital of Philadelphia (CHOP) recently announced their successful treatment of otosclerosis in an 11-year-old child. This achievement comes after commencing the treatment process in October of last year. Currently, the patient’s symptoms are limited to a mild to moderate hearing loss. They can now hear conversational speech, the sound of cars, and even the sound of their own hair being cut.
The patient in question was born with otosclerosis due to a mutation in the otoferlin (OTOF) gene. The treatment process involved surgically accessing the inner ear, specifically the cochlea, and introducing a viral vector containing the normal OTOF gene. Once the cells receive this gene, they respond to sound and transmit signals as they should.
Congenital otosclerosis can be caused by around 150 different genes and, overall, it affects approximately 1 in 500 newborns, resulting in varying levels of hearing loss. John A. Germiller, the researcher leading this study, emphasized that OTOF is not the most commonly found cause of otosclerosis. However, the researchers chose to focus on this particular gene as it seemed to be more easily treatable. This is because the abnormal OTOF gene does not completely destroy the proteins in the ear, allowing for the potential of restoring the function of the inner ear.
TLDR: The Children’s Hospital of Philadelphia (CHOP) successfully treated otosclerosis in an 11-year-old child by introducing a normal OTOF gene into the inner ear using a viral vector. The patient now experiences only mild to moderate hearing loss, a remarkable improvement from their previous condition. This research sheds light on possible treatment options for congenital otosclerosis, a condition that affects around 1 in 500 newborns.
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