A Gene therapy trial in the UK has improved the hearing of a baby girl who was born deaf.
Opal Sandy was born speechless due to a rare genetic disorder known as auditory neuropathy, which disrupted nerve signals from her inner ear to her brain, per Star Local Media. Her cochlear implant did not improve her hearing. An innovative gene therapy experiment at Cambridge University Hospitals in England has improved Opal's hearing.
Opal, 18 months old, is the first child in the United Kingdom and the youngest internationally to receive this revolutionary therapy, which has opened her world to sound. Opal's mother, Jo Sandy, was overjoyed to see her initial response to sound, and doctors confirmed her hearing improvements.
Gene Therapy Trial Results Beat Expectations
The trial's principal researcher, hospital ear surgeon Dr. Manohar Bance, said the findings exceeded expectations. Opal's cochlea receives a functioning copy of the OTOF gene, which produces otoferlin, directly from a harmless virus called AAV1. Opal received a left-ear cochlear implant and gene therapy.
Deaf girl is cured and can hear again after first ever gene therapy https://t.co/VBJsqSrXKt pic.twitter.com/84XJHDkDRY
— The Independent (@Independent) May 9, 2024
Within six months, Opal showed remarkable growth, responding to sound even with her cochlear implant off. As of 18 months old, she can recognize her parents' voices and say rudimentary phrases.
Opal's experience gives other children with aural neuropathy hope, which is typically undiagnosed until speech problems appear. Early intervention is essential due to fast brain development in infancy.
Experts expect the gene therapy experiment to revolutionize hearing loss therapy. Martin McLean, a member of the British National Deaf Children's Society, foresees significant benefits for affected families and emphasizes the trial's relevance in furthering gene therapy for inherited hearing problems.
According to Cleaveland Clinic, gene therapy uses genetic material to prevent and treat illnesses, replacing medicine and surgery. It alters cell genetics to create desired proteins or drugs by addressing the problem's source.
Genetic material is transferred into cells to alter protein synthesis. It may entail lowering disease-causing proteins, boosting useful proteins, or creating new or modified proteins in cells.
Human chromosomes in cell nuclei contain genetic information and provide protein synthesis instructions. Genetic variations can be caused by aging, environmental conditions, and biological parents. While some variations are harmless, some might cause sickness or problems that require treatment.
Gene therapy corrects genetic defects by filling in missing information or correcting genetic instructions, like a blueprint.
Most gene treatments are in clinical trials to determine their effectiveness and safety. Researchers test gene therapy for cancer, macular degeneration, genetic abnormalities, and HIV/AIDS.
Blindness Cured By Gene Therapy
The success of Gene therapy trials has recently made headlines. Among them is an early-stage clinical experiment in the New England Journal of Medicine that showed promise for the CRISPR gene therapy for genetic blindness, previously reported by TechTimes.
The Children's Hospital of Philadelphia and the Mass Eye and Ear Ocular Genomics Institute project targeted people with Leber Congenital Amaurosis (LCA), an uncommon genetic condition that causes birth defects. According to Star Local Media, 11 of 14 individuals who received a single gene-editing injection improved their eyesight in one eye.
Dr. Tomas Aleman, the study's pediatric ophthalmologist, called the findings astounding, marking the first time congenitally blind infants received gene editing to improve their daytime vision.
Lead researcher Dr. Eric Pierce stressed the therapy's importance, especially for patients without previous treatment alternatives. He emphasized participants' good feedback, noting new skills, including plate recognition.
At birth or within six months, two to three babies per 100,000 develop LCA. Mutations in the CEP290 gene affect retinal rods and cones, which process visual inputs.
Related Article: Over 6 Million Americans Face Risk of Genetic Alzheimer's With 95% Strike Rate
