Leber Congenital Amaurosis (LCA)
Leber Congenital Amaurosis (LCA) is a rare genetic eye disease that appears at birth or in the first few months of life.
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Look Forward – Winter 2024 – Issue 184
Welcome to the winter edition of Look Forward. It’s packed full of news from our Conferences, the latest research news and an interview with Hassina Zeriri, one of our funded PhD students. We have also included details of lots of ways you can get involved with Retina UK over the coming months, along with some suggested festive fundraising for the Christmas period.
First patient receives ground-breaking treatment
In January 23-year-old Jake Ternent became the first person with an inherited sight loss condition to be treated in the UK with Luxturna (voretigene neparvovec) for Leber congenital amaurosis (LCA).
Research round-up, spring 2023
Progress towards treatments for inherited retinal conditions continues to gather pace and there’s been lots going on in the last few months, with more and more approaches being explored. This round-up gives a flavour of the variety of developments, including plenty that are not specific to a particular genetic fault.
Potential drug targets identified for RP
A recently published study has described numerous disease mechanisms that appear to be common across different types of inherited sight loss, suggesting that there is significant potential for drug treatments that could work regardless of the underlying causative gene.
The Gene Team
Funding from Retina UK has allowed to team to explore the viability of gene therapy as a treatment for RP and related conditions, and build a pipeline of clinical trials.
Autosomal recessive inheritance
Autosomal recessive inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that both copies need to be faulty to cause sight loss
Disappointing news from ProQR clinical trial for LCA10
ProQR has published the top-line results from its Phase 2/3 “Illuminate” trial of the RNA therapy sepofarsen for Leber congenital amaurosis type 10 caused by a specific mutation in the CEP290 gene.
ProQR announces agreement with Laboratoires Théa for inherited retinal disease programmes
Biotechnology company ProQR has announced that two of its RNA therapy development programmes for inherited sight loss are being acquired by Laboratoires Théa, a company specialising in eye care products.