Congenital deafness: gene therapy is effective in children but also adults | The doctor’s daily life

Gene therapy for congenital deafness. However, developed by researchers from Karolinska Institutet, Sweden, and hospitals and universities in China, seems well tolerated and effective in the medium term. In addition, Several promising studies in this particular deafness have been carried out on a global scale. Similarly, including a French test involving the Pasteur Institute, the Necker-Enfants Malades (AP-HP), the hearing and the sensorion biotechnology society. Nevertheless, But the data generally lacks in older populations.

The clinical trial included 10 patients aged 1 to 24 with an autosomal recessive hereditary deafness (DFNB9). Similarly, characterized by an Otoferline deficiency, which is involved in the transmission of ear signals to the brain. Gene therapy uses an adeno-associated virus (AAV) as a vector for delivering a functional version of the OTOF gene. in the inner ear via a single injection into the cochlear window.

Preliminary results, published congenital deafness: gene therapy effective in Nature Medicineare encouraging. Therapy has improved hearing for all patients without severe side effects. “This can have a significant effect on quality of life”rejoices Maoli Duan, co -author of the study.

Improvements after a month – Congenital deafness: gene therapy effective

Patients have tolerated therapy well. with 162 side effects of grades 1 and 2, the most frequent (10 %) was a drop in the level of neutrophils. The therapeutic effect was observed quickly, the majority of hearing improvements have appeared in a month. After at least six months of follow -up. the average improvement in hearing sensitivity was significant, going from 106 dB (inclusion) to 52 dB.

Other hearing parameters were also improved: the hearing response threshold of the brainstem (ABR) to the “click” going from 101 to 48 dB. the “Tone Burst” threshold from 91 to 57 dB and the “Steady State” auditory response from 80 to 64 DB. Efficiency congenital deafness: gene therapy effective was dependent on age, with an optimal prognosis when therapy is administered to children aged 5 to 8. The authors cite the example of a 7-year-old child who has recovered almost all of his hearing. having been able to converse on a daily basis with his mother from four months post-intervention. The clinical trial is still in progress and must assess the safety and the maintenance of five years of hearing.