Recently, a UK girl born deaf could hear unaided, after a gene-therapy treatment.

About the Patient and disease:

  • She (Opal Sandy) had the therapy in her right ear, under general anaesthetic, and a cochlear implant put into her left ear.
  • A cochlear implant is an electronic device that improves hearing.
  • She is the youngest person to have their hearing restored after undergoing new gene therapy.
  • She had a genetic form of auditory neuropathy caused by the disruption of nerve impulses traveling from the inner ear to the brain.

About the therapy:

  • The gene therapy known as ‘DB-OTO’ is specifically designed for children with OTOF mutations.
  • In this method, a safe virus is used to inject the patient with the functional gene.
  • Auditory neuropathy can be caused by a fault in the OTOF gene.
  • The OTOF gene produces a protein called otoferlin, which is crucial for the inner hair cells in the ear to communicate with hearing nerves.
  • By inserting a functional copy of the gene into the ear, Regeneron’s “new era” gene therapy fixes the defect.
  • The therapy uses a modified, harmless virus to deliver a working copy of the OTOF gene into these cells.
  • Hearing loss caused by a variation in the OTOF gene is not commonly detected until children are two or three years old.

Significance of this therapy

  • This successful case exemplifies the transformative potential of gene therapy in addressing genetic forms of hearing loss thus offering hope for affected individuals worldwide.
  • This case also pave the way for further advancements in the related fields of medical genetics and gene therapy.
  • Doctors in other countries are also exploring similar treatments for the OTOF gene mutation.
  • Gene therapies are also being used to treat a few other diseases like: – an eye disorder called Leber congenital amaurosis and a muscle disorder called spinal muscular atrophy. 

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