Results 31 to 40 of about 1,367 (120)

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

Orphanet Journal of Rare Diseases, 2021
Background This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.
Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi, Francesca Simonelli, Italian IRD Working Group   +8 more
doaj   +1 more source

Intravitreal air tamponade after AAV2 subretinal injection modifies retinal EGFP distribution

Molecular Therapy: Methods & Clinical Development, 2023
The subretinal injection protocol for the only approved retinal gene therapy (voretigene neparvovec-rzyl) includes air tamponade at the end of the procedure, but its effects on the subretinal bleb have not been described.
Jean-Baptiste Ducloyer, Virginie Pichard, Mathieu Mevel, Anne Galy, Gaelle M. Lefevre, Nicole Brument, Dimitri Alvarez-Dorta, David Deniaud, Alexandra Mendes-Madeira, Lyse Libeau, Caroline Le Guiner, Therese Cronin, Oumeya Adjali, Michel Weber, Guylène Le Meur   +14 more
doaj   +1 more source

Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy

Indian Journal of Ophthalmology, 2022
Inherited retinal diseases (IRD) are genotypically and phenotypically varied disorders that lead to progressive degeneration of the outer retina and the retinal pigment epithelium (RPE) eventually resulting in severe vision loss.
Rajani Battu, Dhanashree Ratra, Lingam Gopal   +2 more
doaj   +1 more source

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice. [PDF]

Eye (Lond)
Biallelic mutations in the RPE65 gene affect nearly 8% of Leber Congenital Amaurosis and 2% of Retinitis Pigmentosa cases. Voretigene neparvovec (VN) is the first gene therapy approach approved for their treatment.
Testa F, Bacci G, Falsini B, Iarossi G, Melillo P, Mucciolo DP, Murro V, Salvetti AP, Sodi A, Staurenghi G, Simonelli F.   +10 more
europepmc   +2 more sources

Voretigene Neparvovec Gene Therapy in Clinical Practice: A 12-Month, Single-Center, In-Depth Analysis of Beneficial and Adverse Drug Effects. [PDF]

Transl Vis Sci Technol
Purpose: To investigate the effects of voretigene neparvovec (VN) treatment in patients with RPE65-related retinal dystrophies, with particular focus on chorioretinal atrophy (CRA)anditsimpactonvisualfunction.
Testa F, Di Iorio V, Melillo P, Karali M, Iodice CM, Danila P, Iovino C, Banfi S, Rossi S, Della Corte M, Simonelli F.   +10 more
europepmc   +2 more sources

Prospects for the diagnosis and gene therapy of inherited retinal dystrophies caused by biallelic mutations in the RPE65 gene

Российский офтальмологический журнал, 2021
Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development of gene therapy, a new era in the treatment of hereditary  human diseases has opened.
V. V. Neroev, L. A. Katargina, V. V. Kadyshev, I. V. Zolnikova, S. I. Kutsev   +4 more
doaj   +1 more source

Prime Editing for Inherited Retinal Diseases

Frontiers in Genome Editing, 2021
Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a genetic mutation—inherited or de novo—with a majority of IRDs resulting from point mutations ...
Bruna Lopes da Costa, Bruna Lopes da Costa, Sarah R. Levi, Eric Eulau, Yi-Ting Tsai, Yi-Ting Tsai, Peter M. J. Quinn   +6 more
doaj   +1 more source

Percorso diagnostico-terapeutico e modello organizzativo per l’erogazione della terapia genica nelle distrofie retiniche ereditarie in real-life

AboutOpen, 2023
Background: Leber congenital amaurosis is the first form of inherited retinal dystrophy (IRD) treated with a gene therapy approach using voretigene neparvovec (VN).
Francesco Bandello, Maurizio Battaglia Parodi, Leonardo Colombo, Fabrizio Giansanti, Marcello Pani, Francesco Parmeggiani, Ugo Procoli, Stanislao Rizzo, Annalisa Scopinaro, Andrea Sodi, Annamaria Staiano, Giovanni Staurenghi, Francesca Simonelli   +12 more
doaj   +1 more source

Visual Acuity, Retinal Morphology, and Patients’ Perceptions after Voretigene Neparovec-rzyl Therapy for RPE65-Associated Retinal Disease

, 2022
To explore the effect of patients’ age, baseline visual acuity (VA), and intraoperative foveal detachment on outcomes of subretinal voretigene neparvovec-rzyl (Luxturna) therapy and to assess patients’ perceptions of the treatment effect.
Mendoza-Santiesteban, Carlos E, Lam, Byron L, Zheng, D. Diane, Feuer, William J, Sisk, Robert A, Davis, Janet L, Gregori, Ninel Z, Berrocal, Audina M, Weng, Christina Y, Sengillo, Jesse D   +9 more
core   +1 more source

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

Türk Oftalmoloji Dergisi, 2022
Objectives:Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness.
Neslihan Sinim Kahraman, Ayşe Öner, Yusuf Özkul, Munis Dündar   +3 more
doaj   +1 more source