Human retinal gene therapy for LCA Neuroscience

Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. Clinical trials with gene augmentation therapy have shown partial reversal of the dysfunction, but the effects on the degeneration are not known. We...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research

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Gyroscope Therapeutics, a retinal gene therapy company, has developed the Orbit subretinal delivery system (SDS). The technology is designed to deliver therapies to the retina without the need for invasive procedures, such as vitrectomies, which invo...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Genetics Medicine Source Type: blogs
Mutations in the cone rod homeobox (CRX) transcription factor lead to distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber congenital amaurosis (LCA). Adeno-Associated virus (AAV) vector-mediated delivery of a CRX cDNA under the control of a CRX promoter region partially restored photoreceptor phenotype and expression of phototransduction genes in an in vitro model of CRX-LCA. Gene therapy using the CRX-AAV vector to retinal organoids derived from induced pluripotent stem cells (iPSCs) of a patient with the dominant CRX-I138fs mutation partially restored expression of visual opsins and...
Source: NIH OTT Licensing Opportunities - Category: Research Authors: Source Type: research
A Hatteras backed early stage life science company has used its new funding to acquire the exclusive rights to a gene therapy platform targeting eye disease. On Wednesday, Durham-based Atsena Therapeutics announced that it has acquired the exclusive rights to a gene therapy from French pharma giant Sanofi. The therapy targets GUCY2D-associated Leber congenital amaurosis (LCA1) – a genetic eye disease that affects the retina and is a leading cause of blindness in children. The acquisition follows…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
Basel, 22 July 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced detailed results from the phase III Archway study evaluating its investigational Port Delivery System with ranibizumab (PDS) for the treatment of neovascular or “wet” age-related macular degeneration (nAMD), a leading cause of blindness globally.1 In Archway, 98.4% of PDS patients were able to go six months without needing additional treatment and achieved vision outcomes equivalent to patients receiving monthly ranibizumab eye injections, a current standard of care. In the study, PDS was generally well-tolerated, with a favourable benefit...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
Click to Access Audio Press ReleaseRARITAN, NJ, July 17, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson announced today six-month data from the ongoing Phase 1/2 trial (NCT03252847) of its investigational gene therapy for the treatment of inherited retinal disease X-linked retinitis pigmentosa (XLRP). The interim data showed that low and intermediate doses of the investigational adeno-associated virus retinitis pigmentosa GTPase regulator (AAV-RPGR) were generally well-tolerated and indicated significant improvement in vision. Initial data on the novel AAV-RPGR asset, jointly developed with Meira...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
Conclusions: Results showed that tm-scAAV2-BDNF-treated retinas were resistant to NMDA injury, while retinas treated with the control AAV exhibited histopathological and functional changes after the administration of NMDA. These results suggest that tm-scAAV2-BDNF is potentially effective against inner retinal injury, including normal tension glaucoma. PMID: 32565669 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research
Abstract Leber's hereditary optic neuropathy (LHON) is a rare, maternally-inherited optic neuropathy caused by mitochondrial DNA point mutations and which can cause blindness. Currently, Raxone (idebenone) is the only available medicinal product authorised to treat LHON within the European Union and LHON remains an unmet medical need. The aim of this article was to summarise interventional clinical trials published over the past 5 years (between 2014 and 2019) with the primary purpose of treating LHON. Therapeutic approaches discussed include modulating agents of the mitochondrial electron transport chain s...
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
We describe unrelated subjects with ichthyosis, failure to thrive, thrombocytopenia, hearing loss, and profound photophobia, progressing to complete deafness and near-complete blindness in one subject. Exome sequencing reveals that each have novel and deleterious biallelic mutations in AP1B1, the gene encoding the β subunit of heterotetrameric adapter protein 1 (AP-1) complexes. There are two types of AP-1 complex, ubiquitous AP-1A and epithelium-specific AP-1B, which function in clathrin-coated vesicle budding within the trans-Golgi network and endosomes and in polarized transport of proteins to the basolat eral membrane.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research
In this study, we used markers to monitor the formation of SGs in Caenorhabditis elegans. We found that, in addition to acute heat stress, SG formation could also be triggered by dietary changes, such as starvation and dietary restriction (DR). We found that HSF-1 is required for the SG formation in response to acute heat shock and starvation but not DR, whereas the AMPK-eEF2K signaling is required for starvation and DR-induced SG formation but not heat shock. Moreover, our data suggest that this AMPK-eEF2K pathway-mediated SG formation is required for lifespan extension by DR, but dispensable for the longevity by reduced ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Researchers here propose an interesting approach to restoring vision in cases of age-related macular degeneration. They are using a gene therapy targeted at photoreceptor cells to provide these cells with the ability to be stimulated by near-infrared light. In tests in mice, this appears to function as intended, though it is always challenging to assess the quality of vision (as opposed to its presence or absence) in such experiments. The main cause of blindness in industrialized countries is the degeneration of photoreceptors, including age-related macular degeneration and retinitis pigmentosa. During the progres...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
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