Finding cures for children's genetic diseases

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CMRI welcomes first gene therapy for eye disease

08/Oct/2020  

Children’s Medical Research Institute was pleased to hear the announcement that the Therapeutic Goods Administration (TGA) has registered a drug known as LUXTURNA® as the first gene therapy for inherited retinal disease. One of its senior scientists, Professor Robyn Jamieson, has been involved in the process to get to this exciting stage.

It will be used for the treatment of patients with inherited retinal dystrophy caused by pathological biallelic RPE65 mutations and who have sufficient viable retinal cells as determined by the treating physician. LUXTURNA®, is injected under the retina and carries a functioning RPE65 gene to replace the faulty one.

“The availability of LUXTURNA® for the first time provides a treatment for people with inherited retinal diseases. LUXTURNA® is the first gene replacement therapy for blinding eye conditions and one of the first gene replacements for any human disease. This heralds a new era in transforming the lives of these people who otherwise have a life of blindness ahead of them. Although this treatment is for a rare genetic form of retinal dystrophy this therapy will be the first of many providing hope and treatment for many people,” said John Grigg, Professor and Head, Discipline of Ophthalmology, Save Sight Institute, The University of Sydney.

“This is ground-breaking news in Australia, the first eye gene therapy soon to be available for clinical use. This one is for RPE65-related retinal vision loss. It is a revolutionary change for people with genetic retinal disorders like retinitis pigmentosa, because it provides real hope for therapies for this whole group of conditions,” said Robyn Jamieson, Professor of Genomic Medicine, Head, Eye Genetics Research Unit, Children’s Medical Research Unit and Sydney Children’s Hospitals Network, and Head, Discipline of Genomic Medicine, University of Sydney.

Children and adults born with a mutation in both copies of the RPE65 gene can suffer from a range of symptoms, including night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision, and loss of sharpness or clarity of vision,6 potentially progressing to total blindness. Research shows that vision impairment and blindness in children frequently cause social isolation, emotional distress, loss of independence, or hazards such as falls and injuries.

“Inherited retinal diseases are a group of conditions that disproportionally affect children and young adults and lead to blindness. In Australia, one in every 1,500 children is born with an inherited retinal disease. The patient burden is extremely high and the impact on family and friends can also be devastating. Retina Australia welcomes the news of this new targeted gene therapy that has the potential to improve vision and prevent progression towards total blindness for people with mutations in the RPE65 gene. This life-changing therapy brings hope to more than 15,000 affected Australians that treatment for all forms of inherited retinal disease may be possible. Retina Australia looks forward to learning how patients respond to LUXTURNA®,” said Leighton Boyd, Chairman, Retina Australia.

“Leber’s amaurosis is a devastating diagnosis for a child and their family. Gene therapy using LUXTURNA® now offers some children with Leber’s amaurosis associated with the RPE65 gene, the opportunity to improve and retain their functional vision. This will allow the child to lead an independent life,” said Frank Martin, Clinical Professor in the Department of Paediatrics and Child Health and Ophthalmology at the University of Sydney.

“The TGA registration of the first gene therapy in Australia, LUXTURNA®, marks a milestone in reimagining medicine and has the potential to bring real value to patients in Australia living with inherited retinal dystrophy, their families and society as a whole," said Richard Tew, Country President, Novartis Australia and New Zealand. “At Novartis, we bring together our heritage in ophthalmology and our investment in accelerating gene therapy to deliver on our commitment to help transform eye care for patients suffering from a variety of rare ophthalmic diseases including inherited retinal dystrophy.”