The prevalence of this disease is 1: 30,000 individuals considering the three types of USHER identified, the most common being type II (60% of cases), caused mostly by the USH2A gene. Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. Usher syndrome is a genetic disorder that presents recessive inheritance and is characterized by hearing loss and retinitis pigmentosa, traits that may be total or partial. Normal individuals are shown as clear circle (female) or square (male). A, M567 pedigree with Usher syndrome type IIA. The therapeutical approach aims to exclude the exon 13 coding region in the First patient treated in ProQR STELLAR phase 1/2 gene therapy clinical trial for Usher Syndrome Type II A M567 pedigree with Usher syndrome type IIA and the pure-tone audiograms. We report a case carrying novel biallelic variants in USH2A causing progressive early adolescent onset visual and hearing impairment consistent with Usher Syndrome Type IIA. The condition is clinically and genetically heterogeneous, with no current treatment. USH2A encodes usherin, which was previously defined as a basement membrane protein. It is the most common genetic form of USH. 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. Background Usher Syndrome is the commonest cause of inherited blindness and deafness. PMID: 16301217 DOI: 10.1093/hmg/ddi416 Abstract Usher syndrome type IIa (USH2A) combines moderate to severe congenital hearing impairment and retinitis pigmentosa. Nevertheless, this long, highly regulated process is an unavoidable step Promising results for a first-in-class Usher syndrome IIA therapy 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. Update on phase III therapies for hereditary vision disorders Usher syndrome type II is the most frequent type of USH, accounting for over half of the reported cases.
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