2 Novel Treatments For Retinitis Pigmentosa Move Closer To Clinical Trials

Two recent experimental treatments - one involving skin-derived induced pluripotent stem (iPS) cell grafts, the other gene therapy - have been shown to produce long-term improvement in visual function in mouse models of retinitis pigmentosa (RP), according to the Columbia University Medical Center (CUMC) scientists who led the studies. At present, there is no cure for RP, the most common form of inherited blindness. "While these therapies still need to be refined, the results are highly encouraging," said Stephen H...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Eye Health / Blindness Source Type: news

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gaw Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene replacement and gene editing treatments for RP, it is also necessary to develop treatments that are applicable to all causative mutations. Further understanding of the mechanisms leading to photoreceptor death is essential for the development of these treatments. Recent work has therefore focused on the role of apoptotic and non-apoptotic cell death pathways in RP and t...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
Numerous rhodopsin mutations have been implicated in night blindness and retinal degeneration, often with unclear etiology. D190N-rhodopsin (D190N-Rho) is a well-known inherited human mutation causing retinitis pigmentosa. Both higher-than-normal spontaneous-isomerization activity and misfolding/mistargeting of the mutant protein have been proposed as causes of the disease, but neither explanation has been...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
CONCLUSIONS: Although the systemic phenotypes were found to be associated with the HK1 mutations, only the E847K mutation can cause a non-syndromic photoreceptor degeneration. Our study strengthened the hypothesis that the amino acid E847 might play a critical role in the maintenance of the morphology and function of the photoreceptors. PMID: 32814480 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
In this report we highlight the association of retinitis pigmentosa with hypomyelinating sensory-autonomic neuropathy, which could be underdiagnosed due to variable severity. To summarize, the phenotypic heterogeneity of FLVCR1 variants is broad and should include retinitis pigmentosa along with range of neurological features. PMID: 32822874 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Conclusion: No light perception was measured in only 0.46% of patients. Thus, only a very small number of the RP patients in our cohort progressed to total blindness.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
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
Retinitis Pigmentosa (RP) is a group of inherited retinal diseases characterized by progressive loss of rod followed by cone photoreceptors. An especially early onset form of RP with blindness in teenage years is caused by mutations in mertk, the gene encoding the clearance phagocytosis receptor Mer tyrosine kinase (MerTK). The cause for blindness in mutant MerTK-associated RP (mutMerTK-RP) is the failure of retinal pigment epithelial cells in diurnal phagocytosis of spent photoreceptor outer segment debris. However, the early onset and very fast progression of degeneration in mutMerTK-RP remains unexplained. Here, we expl...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionPatients with RP associated with the m1 variant have a progressive and severe retinal degeneration that begins at an early age. Monitoring the surviving photoreceptor areas by AO fundus imaging can provide a more precise pathological record of retinal degeneration.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research
Retinal prostheses promise the restoration of vision to people with age-related macular degeneration, retinitis pigmentosa, and other conditions that lead to the loss of functional photoreceptors. A number of technologies are already in existence tha...
Source: Medgadget - Category: Medical Devices Authors: Tags: Materials Ophthalmology Source Type: blogs
This study focuses on the detection of RP from the fundus image, which is a crucial task because of the low quality of fundus images and non-cooperative image acquisition conditions. Automatic detection of pigment signs in fundus images can help ophthalmologists and medical practitioners in diagnosing and analyzing RP disorders. To accurately segment pigment signs for diagnostic purposes, we present an automatic RP segmentation network (RPS-Net), which is a specifically designed deep learning-based semantic segmentation network to accurately detect and segment the pigment signs with fewer trainable parameters. Compared wit...
Source: Sensors - Category: Biotechnology Authors: Tags: Article Source Type: research
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