When discussing the treatment for prevalent disorders such as hypertension or asthma, hardly ever do we stop and consider the time and effort that are needed to move from the characterization of the pathology at the clinical level to the implementation of an effective therapy. Nevertheless, this long, highly regulated process is an unavoidable step to secure a safe...
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Mutations in the RHO gene are the main cause of dominant forms of retinitis pigmentosa (RP). RHO dictates the production of rhodopsin, a transmembrane protein present in large quantities in the outer segment of rod photoreceptor cells which, together with 11-cis-retinal, initiates the phototransduction cascade. Mutations in RHO often cause photoreceptor toxicity because they negatively affect the function of the...
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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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In the first months of 2020, positive results in gene therapy of X-linked retinitis pigmentosa (XLRP) have been reported. XLRP is an inherited genetic disorder that causes progressive vision loss, mainly in men. It begins in childhood with night blindness, progresses with the gradual reduction of the visual field and visual acuity, and leads to blindness in the fourth decade...
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