Batten disease is the most common inherited neurodegenerative disease of children and young adults in the UK. It develops in a healthy child, and causes progressive deterioration and loss of vision as well as epilepsy and a gradual decline in cognitive and physical abilities. There are currently no effective treatments available, and it is always fatal. UK researchers from the UCL Institute of Ophthalmology and the MRC Laboratory for Molecular Cell Biology are currently working to improve the sight of affected children. The BDFA already fund a graduate PhD student working with Dr. Sara Mole, who leads research on Batten disease at UCL, and Prof Robin Ali at the UCL Institute of Ophthalmology. This team is developing a treatment that involves inserting healthy copies of the missing Batten disease gene into the cells of the retina to help them to function normally.
Dr Sara Mole says “This work is a culmination of twenty years research on Batten disease which began by identifying the first gene causing this disease in 1995, and thirteen more since then. We are still working to understand what these genes do but that does not stop us from developing new ways to bring therapies to help those families affected by this devastating and distressing disease”.
The BDFA are committed to continuing to support this vital work to bring the goal of a treatment closer. The generous funding from Beefy’s Charity Foundation has allowed us to continue to fund this work for a further year.
Andrea West (Chief Executive of the BDFA ) comments:
This project is a high priority for us as a Charity and the generous funding from Beefy’s Charity Foundation has enabled us to extend the vital work of Dr Mole, and Professor Ali’s team as we endeavor to improve the lives of children and families living with this devastating disease.
Professor Robin Ali together with eye surgeon Mr. James Bainbridge have already successfully treated patients with a condition called Leber’s congenital amaurosis (LCA), another rare inherited eye disease, in the first clinical trial of its kind in the world.. This treatment has been shown to be safe and can improve sight. The findings were a landmark for gene therapy technology and could have a significant impact on future treatments for many eye diseases, including Batten disease.
Commenting on the findings, Professor Ali said: “Showing for the first time that gene therapy can work in patients with eye disease was a very significant milestone. The first trial established proof of principle of gene therapy for inherited retinal disease and paved the way for the development of gene therapy approaches for a broad range of eye disorders, including Batten disease for which there is no other treatment. Gene therapy is still an experimental treatment and not yet generally available to patients.”