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. …
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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 …
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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 …
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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 …
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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 …
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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 …
AGTC enrols first patient of second cohort for XLRP trial
Applied Genetic Technologies has enrolled the first patient of the second cohort in a Phase l/ll clinical trial to examine the safety and efficacy of an unnamed investigational AAV-based gene therapy for the treatment of X-linked retinitis pigmentosa (XLRP). The open-label, dose-escalation trial is being conducted as part of a collaboration between AGTC and Biogen. …
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Gene therapy for dogs could help RP patients
A US clinician has received a five-year, £6.1 million grant to investigate the potential of advancing a gene therapy currently used in dogs to help retinitis pigmentosa patients. Michigan State University veterinary ophthalmologist, Simon Petersen-Jones, has highlighted in research published in The Journal of Clinical Investigation that the treatment restored night vision and stopped the …
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Researchers develop a new CRISPR technique to restore retinal function in mice with RP
Researchers from Columbia University have developed a new technique for the powerful gene editing tool CRISPR to restore retinal function in mice with retinitis pigmentosa. This is the first time researchers have successfully applied CRISPR technology to a type of inherited disease known as a dominant disorder. Dr Stephen H. Tsang, and his colleagues sought …
Researchers create a retina cell network on a chip modelled after a humans neural network
Scientists have developed a new lab-on-a-chip technology that could quickly screen potential drugs to repair damaged neurons and retinal connections. Such damage is seen in people with RP, macular degeneration or those who have had too much exposure to the glare of electronic screens, according to the study published in the journal Science Advances. Researchers …