The Dutch biotechnology company ProQR has just presented (March 2021) the first results of a clinical trial, named Stellar, with QR-421a, an antisense oligonucleotide designed to stop vision loss or restore vision in Usher syndrome IIA and non-syndromic retinitis pigmentosa patients due to USH2A exon 13 mutations. The therapeutical approach aims to exclude the exon 13 coding region in the...
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The biopharma company GenSight Biologics, specialized in developing gene therapies for retinal degenerative diseases, recently published results of two Phase III clinical trials on the effect of LUMEVOQ gene therapy for Leber Hereditary Optic Neuropathy (LHON) patients. In September 2020, GenSight requested approval of LUMEVOQ to the European Medicines Agency (EMA) to treat LHON patients carrying a mutation in the...
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Gene therapies currently under study for retinal dystrophies are administered when viable photoreceptor able to be rescued at the functional level still remain. Most therapies are gene-specific and, in some cases, mutation-specific. In advanced disease stages, when a large number of photoreceptor cells have degenerated, the probability of success of these therapies is very low. Therefore, researchers are exploring methodologies...
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Achromatopsia is a disorder that affects one in every 30,000 people and is characterized by the partial or total absence of colour vision due to lack of function of cones, one type of retinal cells. Achromatopsia patients have other visual problems such as extreme sensitivity to light (photophobia), uncontrollable and involuntary eye movements (nystagmus) and decreased visual acuity. Achromatopsia is...
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Age-related macular degeneration (AMD) is one of the most common disease of the retina and the main cause of vision loss in adults over 60 years. It is estimated that 3 million people worldwide are affected, and its incidence increases as life expectancy grows in developed countries. AMD is a progressive disease that affects the macula, the area near the...
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The end result of many retinal dystrophies is photoreceptor cell death and the irreversible loss of vision. To prevent the progressive loss of retinal neurons, and to slow down or reverse the progression of the disease, gene therapies are currently under study to correct or replace the altered genes responsible for different retinopathies. Another therapeutic strategy that is under intensive...
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