Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Retinoid isomerohydrolase RPE65 has received a tremendous amount of attention due to successful clinical gene therapy for Leber congenital amaurosis (LCA) cases caused by RPE65 mutations.
|
31273949 |
2020 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The form of hereditary childhood blindness Leber congenital amaurosis (LCA) caused by biallelic RPE65 mutations is considered treatable with a gene therapy product approved in the US and Europe.
|
31604676 |
2020 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
RPE65-associated Leber congenital amaurosis (LCA) is one of highly heterogeneous, early onset, severe retinal dystrophies with at least 130 gene mutation sites identified.
|
31572124 |
2019 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
In particular, the first gene therapy bioproduct for RPE65-associated Leber's congenital amaurosis, which was approved by the US Food and Drug Administration in 2017, has provided tremendous encouragement to the field of gene therapy.
|
30170104 |
2019 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Seven novel variants expand the spectrum of <i>RPE65-</i>related Leber congenital amaurosis in the Chinese population.
|
30996589 |
2019 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Four patients with Leber congenital amaurosis had VUSs in RPE65.
|
31580392 |
2019 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient With RPE65-Associated Leber's Congenital Amaurosis.
|
31671202 |
2019 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
|
30870047 |
2019 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correction: Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
|
30046128 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Ocular gene therapy with recombinant adeno-associated virus (AAV) has shown vector-mediated gene augmentation to be safe and efficacious in the retina in one set of diseases (retinitis pigmentosa and Leber congenital amaurosis (LCA) caused by RPE65 deficiency), with excellent safety profiles to date and potential for efficacy in several additional diseases.
|
30195768 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
|
30025081 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Suppression of TH signaling with antithyroid drug treatment or by targeting iodothyronine deiodinases and TH receptors preserves cones in mouse models of retinal degeneration, including the Leber congenital amaurosis Rpe65-deficient mice.
|
29874126 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
|
29033008 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Among many clinical trials of gene therapy for hereditary retinal diseases, a phase 3 clinical trial of voretigene neparvovec (AAV2-hRPE65v2, Luxturna) recently showed significant efficacy for RPE65-mediated inherited retinal dystrophy including Leber congenital amaurosis and RP.
|
29097191 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
|
29332120 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The blonde fundus in such cases may exhibit phenotypic overlap and shared therapeutic implications with other aggressive chorioretinal dystrophies such as end-stage choroideremia, gyrate atrophy, or RPE65-Leber congenital amaurosis.
|
30055151 |
2018 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Various blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65.
|
28041994 |
2017 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the present study, we assessed the potentially deleterious effects of long-term expression of these optogenes on the diseased retina in a large animal model of retinal degeneration, the RPE65-deficient Briard dog model of Leber congenital amaurosis.
|
28880021 |
2017 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy.
|
29133760 |
2017 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
|
28712537 |
2017 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Several approaches have been developed for gene therapy in RPE65-related Leber congenital amaurosis.
|
28754419 |
2017 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
|
26626312 |
2016 |
Leber Congenital Amaurosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
|
27653967 |
2016 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
|
27102010 |
2016 |
Leber Congenital Amaurosis
|
0.800 |
Biomarker
|
disease |
CLINGEN |
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.
|
27375040 |
2016 |