X pigmentosa

Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene: III: RPGR: AAV5-RPGR: USA, Belgium, Canada, Denmark, France, Israel, Netherlands, Spain, Switzerland, UK: Recruiting: NCT a: Follow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa. The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

RE MacLaren has previously received grant funding from Biogen and has previously provided independent consultancy advice on X-linked retinitis pigmentosa to Biogen Inc. and Janssen Pharmaceuticals. RE MacLaren is also listed as an inventor on a patent for X-linked retinitis pigmentosa gene therapy owned by the University of Oxford.

PIGMENTOSA definition: See retinitis pigmentosa

1. Title: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Definition: X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished

Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. Objective To investigate an X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice

Findings In this post hoc analysis of 18 participants in the Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using BIIB112 (XIRIUS) study and 103 participants in the Natural History of the Progression of X-Linked Retinitis Pigmentosa (XOLARIS) trial, early and sustained improvements in visual function were associated

X-linked retinitis pigmentosa is one of the most severe types of hereditary eye disease. Gene therapy opens a new horizon in treating hereditary eye diseases like Leber congenital amaurosis and X-linked retinitis pigmentosa. There have been several preclinical and clinical trials but no approved drugs yet. Selection of a proper gene therapy

Schwahn U, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 2025;7 332. doi: 10.1038/1214. [Google Scholar] 9. Bader I, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.