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

Current management of patients with RPE65 mutation-associated inherited retinal degenerations (IRDs) in Europe. Results of a multinational survey by the European Vision Institute Clinical Research Network EVICR.net

(2021) Birgit Lorenz et al.   OPHTHALMIC RESEARCH

Monitoring progression of retinitis pigmentosa: current recommendations and recent advances

(2020) Moreno Menghini et al.   Expert Opinion on Orphan Drugs

Voretigene neparvovec-rzyl for treatment of RPE65-mediated inherited retinal diseases: a model for ocular gene therapy development

(2020) Thomas A. Ciulla et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Voretigene Neparvovec for Treating Inherited Retinal Dystrophies Caused by RPE65 Gene Mutations: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Appraisal

(2020) Caroline Farmer et al.   PHARMACOECONOMICS

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force

(2019) Arlene V. Drack et al.   JOURNAL OF AAPOS

Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation–Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials

(2019) Albert M. Maguire et al.   OPHTHALMOLOGY

How long does gene therapy last? 4-year follow-up of phase 3 voretigene neparvovec trial in RPE65-associated LCA/inherited retinal disease

(2019) Arlene V. Drack et al.   JOURNAL OF AAPOS

Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges

(2019) Irene Vázquez-Domínguez et al.   Genes

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

(2019) Unikora Yang et al.   JAMA Ophthalmology

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

(2019) Fabiana Motta et al.   Genes

The Natural History of Inherited Retinal Dystrophy due to Biallelic Mutations in the RPE65 Gene

(2018) Daniel C. Chung et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Pharmaceutical Development of AAV-Based Gene Therapy Products for the Eye

(2018) Gerard A. Rodrigues et al.   PHARMACEUTICAL RESEARCH

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

The Role of the Human Visual Cortex in Assessment of the Long-Term Durability of Retinal Gene Therapy in Follow-on RPE65 Clinical Trial Patients

(2017) Manzar Ashtari et al.   OPHTHALMOLOGY

Preserved visual function in retinal dystrophy due to hypomorphicRPE65mutations

(2016) Sarah Hull et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial

(2016) Jean Bennett et al.   LANCET

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

(2015) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Plasticity of the human visual system after retinal gene therapy in patients with Leber’s congenital amaurosis

(2015) Manzar Ashtari et al.   Science Translational Medicine

Gene discovery and prevalence in inherited retinal dystrophies

(2014) Christian P. Hamel   COMPTES RENDUS BIOLOGIES

Defining consensus: A systematic review recommends methodologic criteria for reporting of Delphi studies

(2014) Ivan R. Diamond et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

(2013) Francesco Testa et al.   OPHTHALMOLOGY

The human visual cortex responds to gene therapy–mediated recovery of retinal function

(2011) Manzar Ashtari et al.   JOURNAL OF CLINICAL INVESTIGATION

Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65

(2011) Patrik Schatz et al.   OPHTHALMOLOGY

Predicting the pathogenicity ofRPE65mutations

(2009) A.R. Philp et al.   HUMAN MUTATION

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

(2009) Albert M Maguire et al.   LANCET

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

(2009) Francesca Simonelli et al.   MOLECULAR THERAPY

Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH