"Thanks to SJD, my son took part in a clinical trial and is able to hear for the first time ever"

A patient at the SJD Barcelona Children's Hospital with profound congenital hearing loss from birth has recovered his hearing after a genetic therapy he was given as part of a clinical trial in the United States. Staff at the SJD ENT Department who treated the child were able to offer this treatment thanks to their participation in a clinical trial led by the Children's Hospital of Philadelphia.

Staff at the SJD Barcelona Children's Hospital have brought a retrospective study to the clinical trial about the natural origins of this type of deafness, which is linked to a mutation in the OTOF gene. This gene codes for otoferlin, a key protein involved in hearing, in charge of making sure ciliated cells in the ear send acoustic information to the brain.  

The team at SJD Barcelona Children's Hospital found 12 patients with this mutation, which leads to uncommon type of deafness. It is estimated that only one child is born with this gene mutation each year in Catalonia. 

These patients were closely monitored to assess how their hearing loss progressed, and it was concluded that, despite being born with a degree of hearing, these children progressively lost their ability until they were left completely deaf.  

Aissam, the patient at SJD, was one of these patients and the first to receive the AK-OTOF gene therapy. In October 2023, the patient travelled to the Children's Hospital of Philadelphia with Oliver Haag, Head of the SJD ENT Department, to receive this experimental treatment. Said treatment consisted of placing a genetically modified virus containing the information needed to repair the OTOF gene mutation directly into the cochlea, into the ciliated cells.  

In the 30 days following the procedure, the boy recovered his hearing in all of the tested frequencies, reaching thresholds of 65 to 20 dB HL, and within normal hearing ranges at some frequencies.  

At present, the only option for children with profound congenital hearing loss is to get a cochlear implant during their first few months of life. According to Dr Haag, ‘in Aissam's case, this option was not possible, as he was already too old for a cochlear implant when he arrived at our facility. Gene therapy is not only a beacon of hope for children like Aissam, but for all children born with this genetic mutation’.

Aissam's mother is extremely grateful to the ENT team who treated her son: ‘Thanks to SJD, my son was able to get involved in a clinical trial and now he can hear for the first time. They looked at every possible option to help and treat my son so he would recover his hearing’. Aissam was able to hear the bustle of the street, the noise of the cars, the buzz of people talking, and the voices of his family and classmates for the first time. ‘Now he really enjoys going to school,’ explains the mother. Aissam has another older brother with profound congenital hearing loss. The family hopes that in the near future he will also be able to benefit from the gene therapy Aissam received.