In this project, Professor Jane Sowden at University College London continues to develop gene therapy for Norrie disease, for which there is no treatment. Children with Norrie disease are born blind, and many also begin to lose their hearing from around the age of 12.
Project start date: September 2023
Project end date: August 2026
About the project
Norrie disease is a rare genetic condition caused by changes in a gene called NDP, containing the blueprint to produce a protein called Norrin. Norrin is important in the development and organisation of blood vessels in the eye and ear.
People with Norrie disease carry changes in their NDP gene that means they don’t produce Norrin protein. This means that the blood vessels in the eye and ear don’t form or work correctly.
Using a genetically modified mouse model of Norrie disease, the researchers found that they could use gene therapy to carry the original version of NDP into the inner ear of mice. This gene therapy was able to reduce damage to the inner ear and prevent the mice’s hearing loss.
How it works
With our funding, the researchers will perform experiments that are needed to help this promising new gene therapy become a usable treatment. They will produce their gene therapy molecule so that it can be used in people, and be delivered directly to the inner ear to replace the missing Norrin protein.
They will then measure how effective the therapy is at preventing hearing loss in young mice with Norrie disease, which is an important step before it can be tested in people.
How will this research benefit people with Norrie disease?
The combined effect of losing both their sight and their hearing has a severe impact on their quality of life, social interactions and independence. At the moment, children with Norrie disease who develop hearing loss are offered hearing aids, and cochlear implants once their hearing loss becomes severe. However, these devices have limitations, especially given the children’s blindness, and do not fully restore hearing.
The team of researchers will use the results of this project to support their application for permission to start a clinical trial in people with Norrie disease. If successful, this research will advance a new genetic-based treatment to slow down or prevent hearing loss in Norrie disease.
About the researcher
Professor Jane Sowden is Professor of Developmental Biology and Genetics at the UCL Great Ormond Street Institute of Child Health since 2011 and leads the Eye Development and Repair Research Group. This is an RNID-FPA Translational Research Grant, funded in partnership with Fondation Pour l’Audition.
We believe we are on the brink of gene therapy becoming a treatment for many incurable diseases. We are at the beginning of applying this technology to deafness. I hope that gene therapy will in the future make a difference for people who have hearing loss.”
