Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases

RNA Editing as a Therapeutic Approach for Retinal Gene Therapy Requiring Long Coding Sequences

(2020) Lewis E. Fry et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The promise and challenge of therapeutic genome editing

(2020) Jennifer A. Doudna   NATURE

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

(2020) Jasmina Cehajic-Kapetanovic et al.   NATURE MEDICINE

Oligonucleotides and the COVID-19 Pandemic: A Perspective

(2020) John J. Rossi et al.   Nucleic Acid Therapeutics

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

(2019) Riccardo Sangermano et al.   GENETICS IN MEDICINE

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

(2019) Morgan L. Maeder et al.   NATURE MEDICINE

Precise RNA editing by recruiting endogenous ADARs with antisense oligonucleotides

(2019) Tobias Merkle et al.   NATURE BIOTECHNOLOGY

Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction

(2019) Michelle L. Hastings et al.   Neurotherapeutics

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia

(2019) Lewis E. Fry et al.   JAMA Ophthalmology

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

(2018) Silvia Albert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy

(2018) Dimitra Athanasiou et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Spliceosome-Mediated Pre-mRNA trans -Splicing Can Repair CEP290 mRNA

(2018) Scott J. Dooley et al.   Molecular Therapy-Nucleic Acids

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

(2018) Kanmin Xue et al.   NATURE MEDICINE

Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector

(2018) Artur V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

(2018) Kalyan Dulla et al.   Molecular Therapy-Nucleic Acids

An AAV Dual Vector Strategy Ameliorates the Stargardt Phenotype in Adult Abca4−/− Mice

(2018) Michelle E. McClements et al.   HUMAN GENE THERAPY

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

(2018) Artur V. Cideciyan et al.   NATURE MEDICINE

Critical review on engineering deaminases for site-directed RNA editing

(2018) Paul Vogel et al.   CURRENT OPINION IN BIOTECHNOLOGY

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery

(2017) Serena G Giannelli et al.   HUMAN MOLECULAR GENETICS

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

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

(2017) Carlo Rinaldi et al.   Nature Reviews Neurology

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

(2017) Arif O. Khan et al.   Scientific Reports

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

(2016) David A. Parfitt et al.   Cell Stem Cell

In vitroandin vivorescue of aberrant splicing inCEP290-associated LCA by antisense oligonucleotide delivery

(2016) Alejandro Garanto et al.   HUMAN MOLECULAR GENETICS

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

The delivery of therapeutic oligonucleotides

(2016) Rudolph L. Juliano   NUCLEIC ACIDS RESEARCH

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

(2016) Suzan M. Hammond et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

(2016) Radulfus WN Slijkerman et al.   Molecular Therapy-Nucleic Acids

Cellular uptake and intracellular trafficking of oligonucleotides

(2015) R.L. Juliano et al.   ADVANCED DRUG DELIVERY REVIEWS

Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease

(2015) Ivana Trapani et al.   HUMAN MOLECULAR GENETICS

Repair of Rhodopsin mRNA by Spliceosome-Mediated RNA Trans -Splicing: A New Approach for Autosomal Dominant Retinitis Pigmentosa

(2015) Adeline Berger et al.   MOLECULAR THERAPY

An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

(2014) Miriam Bauwens et al.   HUMAN MUTATION

Toxicological and Pharmacokinetic Properties of QPI-1007, a Chemically Modified Synthetic siRNA Targeting Caspase 2 mRNA, Following Intravitreal Injection

(2014) Elisabeth C.R. Solano et al.   Nucleic Acid Therapeutics

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

(2013) Xavier Gerard et al.   Molecular Therapy-Nucleic Acids

Clinical pharmacokinetics of second generation antisense oligonucleotides

(2012) Rosie Z Yu et al.   Expert Opinion on Drug Metabolism & Toxicology

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Assessing unintended hybridization-induced biological effects of oligonucleotides

(2012) Morten Lindow et al.   NATURE BIOTECHNOLOGY

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

(2012) Rob WJ Collin et al.   Molecular Therapy-Nucleic Acids

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

(2011) Gema Garcia-Garcia et al.   Orphanet Journal of Rare Diseases

RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform

(2010) C. Frank Bennett et al.   Annual Review of Pharmacology and Toxicology

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION