Fellow-KI researchers Anders Kvanta and Fredrik Lanner have been awarded a grant of SEK 10 million from the Promobilia foundation to develop a treatment for inherited retinal diseases, such as retinitis pigmentosa (RP), and age-related macular degeneration (AMD). There is currently no effective therapies for these diseases, which are the main cause of blindness in the developed world.
The overarching goals of the project are to develop clinically approved photoreceptors (rods and cones) and to conduct the first clinical study on photoreceptor replacement therapy to restore vision lost through RP and dry AMD.
The group has already developed a method for producing clinically viable pigment epithelial cells and are now planning a novel method of manufacturing photoreceptors that can replace damaged or dead retinal cells.
"Thanks to the Promobilia foundation research grant, we'll be able to carry out the project and bring hope to the millions of visually impaired individuals around the world who are in danger of becoming blind," says Professor Anders Kvanta at the Department of Clinical Neuroscience , Karolinska Institutet.
"Our aim is to produce new visual cells that can replace the photoreceptors that die in these diseases," says Fredrik Lanner , principal researcher at the Department of Clinical Science, Intervention and Technology , Karolinska Institutet.
Life-enhancing treatment
A unique platform has been built up at KI for the embryonic stem cell-based treatment of these retinal diseases, and a robust method has been developed for producing clinically viable pigment epithelial cells.
An effective therapy would greatly elevate the individual's quality of life and very likely lead to lower costs for the healthcare sector and society by reducing the number of fall injuries and the need for home support, and by increasing labour market availability.
"The Promobilia foundation supports research and innovations that can give people living with a functional impairment the ability to live an active, independent life," says foundation CEO Patrik Malmunger. "The foundation's strategic initiatives make possible long-term, major investments in projects of the highest quality that can change the lives of many people. We're proud to support this project, which has the potential to eventually restore lost vision."
Degenerative retinal diseases
Degenerative retinal diseases, including age-related macular degeneration (AMD) and inherited retinal degeneration such as retinitis pigmentosa (RP), account for the most blindness in developed countries.
AMD affects some 200 million people globally, RP around 8 million. In Sweden, approximately 4,000 people live with an inherited retinal disease, RP being the most common form in those of working age.
The risk of developing AMD increases with age, with three in ten people affected by the age of 75. The disease is chronic and characterised by a gradual loss of central vision.
This is caused by the successive deterioration of the photoreceptors and pigment epithelial cells in the macula, the area of the retina responsible for our central, detailed vision.
The exact cause of dry AMD is not entirely known and there is currently no treatment that can cure it or completely prevent its development.
Gene therapy for RP
RP is caused by mutations in one of at least 50 genes, which normally leads to visual impairment at an early age and eventually blindness.
Research has shown that gene therapy can restore functionality in mild to moderate stages of RP, but the treatment must be adapted to each individual mutation.
Theoretically, photoreceptor replacement could restore vision in advanced stages of the disease as well, and even be gene-agnostic, meaning it can be used for all types of RP.
Source: Anders Kvanta and Fredrik Lanner.
