Cargando…

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

BACKGROUND: This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec. METHODS: An expert steering committee comprising an interdisciplinary panel of Italian experts in the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sodi, Andrea, Banfi, Sandro, Testa, Francesco, Della Corte, Michele, Passerini, Ilaria, Pelo, Elisabetta, Rossi, Settimio, Simonelli, Francesca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176684/ https://www.ncbi.nlm.nih.gov/pubmed/34088339 http://dx.doi.org/10.1186/s13023-021-01868-4

Ejemplares similares

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
por: Testa, Francesco, et al.
Publicado: (2022)

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
por: Aoun, Manar, et al.
Publicado: (2021)

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
por: Han, Jinu, et al.
Publicado: (2023)

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study
por: Testa, Francesco, et al.
Publicado: (2022)

Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
por: Simonelli, Francesca, et al.
Publicado: (2021)

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
por: Karali, Marianthi, et al.
Publicado: (2022)

Ocriplasmin use in a selected case with preserved visual acuity
por: Rossi, Settimio, et al.
Publicado: (2015)

Functional improvement assessed by multifocal electroretinogram after Ocriplasmin treatment for vitreomacular traction
por: Rossi, Settimio, et al.
Publicado: (2016)

Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany
por: Uhrmann, Matthias Fritz, et al.
Publicado: (2020)

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients
por: Testa, Francesco, et al.
Publicado: (2021)

Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation
por: Rossi, Settimio, et al.
Publicado: (2012)

An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65
por: Poli, Giulio, et al.
Publicado: (2023)

An Economic Evaluation of Voretigene Neparvovec for the Treatment of Biallelic RPE65-Mediated Inherited Retinal Dystrophies in the UK
por: Viriato, Daniel, et al.
Publicado: (2020)

Cost-effectiveness of voretigene neparvovec in the treatment of patients with inherited retinal disease with RPE65 mutation in Switzerland
por: Bhadhuri, Arjun, et al.
Publicado: (2022)

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation
por: Stepanova, Anna, et al.
Publicado: (2023)

Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease
por: Johnson, Scott, et al.
Publicado: (2019)

Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy
por: Lloyd, Andrew, et al.
Publicado: (2019)

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
por: Shi, Jie, et al.
Publicado: (2021)

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
por: Sallum, Juliana M. F., et al.
Publicado: (2022)

Methodological Challenges in the Economic Evaluation of a Gene Therapy for RPE65-Mediated Inherited Retinal Disease: The Value of Vision
por: Huygens, Simone A., et al.
Publicado: (2021)

Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations
por: Poli, Giulio, et al.
Publicado: (2022)

Macular abnormalities in Italian patients with retinitis pigmentosa
por: Testa, Francesco, et al.
Publicado: (2014)

Retinal Pigment Epithelium Atrophy After Subretinal Voretigene Neparvovec-rzyl for RPE65-Related Disease: A 6-Month Follow-Up
por: Giansanti, Fabrizio, et al.
Publicado: (2022)

Choroidal Caverns in Stargardt Disease
por: Mucciolo, Dario Pasquale, et al.
Publicado: (2022)

Retinal Structure in RPE65-Associated Retinal Dystrophy
por: Kumaran, Neruban, et al.
Publicado: (2020)

Computational studies for the structure and function of mRPE65
por: Guo, Hao, et al.
Publicado: (2007)

Late presentation of RPE65 retinopathy in three siblings
por: Magliyah, Moustafa, et al.
Publicado: (2020)

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
por: Murro, Vittoria, et al.
Publicado: (2023)

Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis
por: Cho, Eun Hye, et al.
Publicado: (2022)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa
por: El Hachem, May, et al.
Publicado: (2014)

Multimodal Assessment of the Prognostic Role of Ectopic Inner Foveal Layers on Epiretinal Membrane Surgery
por: Gesualdo, Carlo, et al.
Publicado: (2023)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
por: Gao, Feng-Juan, et al.
Publicado: (2021)

The Role of Optical Coherence Tomography in an Atypical Case of Oculocutaneous Albinism: A Case Report
por: Rossi, Settimio, et al.
Publicado: (2012)

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
por: Scholl, Hendrik P. N., et al.
Publicado: (2015)

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants
por: Wu, Jiawen, et al.
Publicado: (2023)

An Economic Comparison of Influenza Vaccines Recommended for Use in Eligible Adults under 65 Years in the United Kingdom
por: Maschio, Michael, et al.
Publicado: (2022)

MicroRNA-Restricted Transgene Expression in the Retina
por: Karali, Marianthi, et al.
Publicado: (2011)

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
por: Barić, Ivo, et al.
Publicado: (2016)

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
por: Di Iorio, Valentina, et al.
Publicado: (2017)

Examining the Role of Cone-expressed RPE65 in Mouse Cone Function
por: Kolesnikov, Alexander V., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_qhhj6k2e5ntcrptqbsrblpt5ol