Subretinal gene therapy for X-Linked retinoschisis (Registro nro. 22777)

000 -Cabecera
Campo de control interno 02956nam a2200265 4500
001 - Número de control
control field ESSALUD
005 - Fecha y hora de la última transacción
Campo de control 20260805114331.0
007 - Tipo material - Descripcion fisica - info general
Tipo material - Descripcion fisica - info general ta
008 - Elementos de Longitud Fija - Información General
Elementos de Longitud Fija - Información t pe ||||| |||| 00| 0 spa d
040 ## - Origen de la Catalogación
Origen de la Catalogación BMG
041 ## - Idioma
Idioma eng
100 ## - Autor
Autor Liang, Licong
Rol del Autor Autor
9 (RLIN) 53941
245 ## - Titulo
Titulo Subretinal gene therapy for X-Linked retinoschisis
300 ## - Páginas
Paginación páginas: 2222-2234
520 ## - Resumen
Resumen Background: X-linked retinoschisis is a recessive disease characterized by progressive macular degeneration and vision loss due to pathogenic variation in RS1.<br/>Methods: We administered a single subretinal injection of an AAV8 vector containing human RS1 complementary DNA (scAAV8-hRS1) into one eye of patients 5 to 18 years of age who had X-linked retinoschisis. The primary end point was safety during the 52-week period after injection. Secondary end points included the change from baseline to week 52 in the best corrected visual acuity (BCVA), retinal structure (assessed with swept-source optical coherence tomography; SS-OCT), the function of photoreceptor and bipolar cells (assessed with full-field electroretinography), and macular sensitivity to light (assessed with microperimetry).<br/>Results: A total of 12 patients were enrolled. The dose-escalation phase included two cohorts of 3 patients each who received scAAV8-hRS1 at a dose of 7.5×1010 or 1×1011 vector genomes. In the dose-expansion phase, 3 additional patients were enrolled in each cohort. Overall, 56 adverse events were reported during the 52 weeks after surgery. No patient was reported to have an adverse event of grade 3 or higher or ocular inflammation. A macular hole in the treated eye was observed at week 1 in 1 patient. The mean increase at week 52 in the BCVA was 10.8 letters among the treated eyes and 2.4 letters among the untreated eyes. SS-OCT imaging showed closure of the macular schisis cavity by week 13 in the treated eye in all 12 patients. The mean change at week 52 in central retinal thickness was −437.7 μm among the treated eyes and −17.2 μm among the untreated eyes; the outer retinal layers in the treated eyes of 9 patients were continuous at week 52. No clinically meaningful changes in the function of photoreceptor and bipolar cells or macular retinal sensitivity were observed in the treated eyes.<br/>Conclusions: In this study of subretinal gene therapy with scAAV8-hRS1 in 12 patients with X-linked retinoschisis, there were no reports of adverse events of grade 3 or higher or ocular inflammation. Further clinical testing of scAAV8-hRS1 is warranted.<br/>
650 ## - Temas - Descriptores
Temas - Descriptores GENETICA
9 (RLIN) 1105
650 ## - Temas - Descriptores
Temas - Descriptores OFTALMOLOGÍA
9 (RLIN) 32364
650 ## - Temas - Descriptores
Temas - Descriptores PEDIATRÍA
9 (RLIN) 6401
700 ## - Autor Personal
Autor Personal She, Kaiqin
9 (RLIN) 53942
700 ## - Autor Personal
Autor Personal Ren, Chengda
9 (RLIN) 53943
700 ## - Autor Personal
Autor Personal Li, Rui
9 (RLIN) 53944
700 ## - Autor Personal
Autor Personal Liao, Meng
9 (RLIN) 53945
773 0# - Revista (Relacion con el numero)
Host Biblionumber 22717
Host Itemnumber 22641
Ciudad, Editorial Massachusetts NEJM Group
Codigo barras item/ejemplar NEJM008
Titulo de la Revista The New England Journal of Medicine
Número de control de registro ESSALUD
ISSN 0028-4793
942 ## - Elementos de Koha
Tipo de Documento Artículos
Fecha procesamiento 2026-08-03
Catalogador SQB

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