Category: Research news

“First-in-class” treatment for vision loss in Usher syndrome takes a step towards clinical testing

A potentially transformative new treatment for vision loss in Usher syndrome type 2 has been given the go-ahead for initial clinical testing in a small number of adults living with the condition. Dutch biotechnology company ProQR Therapeutics announced this week that the U.S. Food and Drug Administration has approved its Investigational New Drug (IND) application …

First gene editing treatment moves towards clinical trials

The US Food & Drug Administration (FDA) has given the go-ahead for clinical testing of what could be the first gene editing treatment to be used in inherited eye disease. The new treatment, known as EDIT-101, has been developed by US-based pharmaceutical company Editas Medicine and aims to use the relatively new gene editing technique …

Gene therapy for RPE65 gene approved for use in EU

The gene therapy Luxturna has won European regulatory approval for the treatment of inherited retinal dystrophy caused by mutations in the RPE65 gene. This milestone decision was made by the European Medicines Agency (EMA) on Thursday, 22 November. Luxturna is the first and only gene therapy available in Europe to treat inherited retinal disease. It …

Ophthalmology clinical research activity on the increase in the UK

Ophthalmology research in the NHS has grown and become more accessible to patients over the last eight years, according to a newly published report in the journal Eye. This is encouraging news for Retina UK as we work towards our aim of anyone living with inherited retinal disease being able to take part in research …

Widespread errors in “proofreading” cause inherited blindness

Mistakes in “proofreading” the genetic code of retinal cells is the cause of a form of inherited blindness, retinitis pigmentosa (RP) caused by mutations in splicing factors. This new understanding of the disease process, published today in Nature Communications, is leading to the development of a gene therapy for RP caused by splicing factor defects. …

First gene therapy for inherited retinal disease takes a step closer to European approval

The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has recommended approval of the gene therapy Luxterna for the treatment of inherited retinal dystrophy caused by mutations in the RPE65 gene. A final marketing authorisation decision from the European Commission is expected in around two months’ time. This will be followed by …

Investigating a revolutionary gene therapy technique for Usher syndrome

Thanks to support from our wonderful community, including those who participated in the Big Give Christmas Challenge last year, we have been able to commit funding to a three-year research project into a potential gene therapy treatment for Usher syndrome, led by Dr Mariya Moosajee at UCL Institute of Ophthalmology. Usher syndrome is the most …

Valproic acid no better than placebo for autosomal dominant retinitis pigmentosa

The results of a clinical trial did not provide support for the use of orally administered valproic acid for the treatment of autosomal dominant retinitis pigmentosa, as it did not outperform a placebo over the course of 12 months. The multicentre, prospective, interventional, placebo-controlled, double-masked, randomised phase II clinical trial included 90 participants who received …

Scientists Reverse Congenital Blindness in Mice

A team of scientists led by the Icahn School of Medicine at Mount Sinai has successfully reversed congenital blindness in mice by changing supportive cells in the retina called Müller glia into rod photoreceptors. The findings, published in the journal Nature, advance efforts toward regenerative therapies for blinding diseases such as age-related macular degeneration and …

ProQR Announces Positive Interim Results from Phase I/II Clinical Trial of QR-110 in LCA10 Patients, and Plans to Start a Phase II/III Pivotal Trial

ProQR Therapeutics, developers of transformative medicines for the treatment of rare genetic diseases, today announced results from its Phase I/II trial of therapy QR-110 in patients with Leber’s congenital amaurosis 10 (LCA10) due to the p.Cys998X mutation in the CEP290 gene. LCA10 typically leads to childhood blindness and has no available treatment options. In the …

New therapy shows promise in LCA disease models

Researchers in London and the Netherlands have demonstrated the ability of a potential therapeutic molecule, known as QR-110, to help correct the defects associated with the most common disease-causing mutation in Leber congenital amaurosis type 10 (LCA10). Their results have been published in the journal Molecular Therapy: Nucleic Acids. LCA10 is a severe, early-onset inherited …

MeiraGTx Receives Orphan Drug Designation from the U.S. FDA for the Treatment of Achromatopsia

MeiraGTx has announced that the US Food and Drug Administration (FDA) has granted orphan drug designation (ODD) for its AAV-CNGA3 gene therapy product candidate for the treatment of achromatopsia (ACHM) caused by mutations in the CNGA3 gene. The FDA’s Orphan Drug Designation programme provides orphan status to drugs and biologics which are defined as those …