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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
Cideciyan, Artur V; Jacobson, Samuel G; Drack, Arlene V; Ho, Allen C; Charng, Jason; Garafalo, Alexandra V; Roman, Alejandro J; Sumaroka, Alexander; Han, Ian C; Hochstedler, Maria D; Pfeifer, Wanda L; Sohn, Elliott H; Taiel, Magali; Schwartz, Michael R; Biasutto, Patricia; Wit, Wilma de; Cheetham, Michael E; Adamson, Peter; Rodman, David M; Platenburg, Gerard; Tome, Maria D; Balikova, Irina; Nerinckx, Fanny; Zaeytijd, Julie De; Van Cauwenbergh, Caroline; Leroy, Bart P; Russell, Stephen R.
Afiliação
  • Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. cideciya@pennmedicine.upenn.edu.
  • Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. jacobsos@pennmedicine.upenn.edu.
  • Drack AV; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Ho AC; Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.
  • Charng J; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Garafalo AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Roman AJ; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Han IC; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Hochstedler MD; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Pfeifer WL; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Sohn EH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Taiel M; ProQR Therapeutics, Leiden, the Netherlands.
  • Schwartz MR; ProQR Therapeutics, Leiden, the Netherlands.
  • Biasutto P; ProQR Therapeutics, Leiden, the Netherlands.
  • Wit W; ProQR Therapeutics, Leiden, the Netherlands.
  • Cheetham ME; UCL Institute of Ophthalmology, London, UK.
  • Adamson P; ProQR Therapeutics, Leiden, the Netherlands.
  • Rodman DM; UCL Institute of Ophthalmology, London, UK.
  • Platenburg G; ProQR Therapeutics, Leiden, the Netherlands.
  • Tome MD; ProQR Therapeutics, Leiden, the Netherlands.
  • Balikova I; ProQR Therapeutics, Leiden, the Netherlands.
  • Nerinckx F; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Zaeytijd J; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Van Cauwenbergh C; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Leroy BP; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Russell SR; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Nat Med ; 25(2): 225-228, 2019 02.
Article em En | MEDLINE | ID: mdl-30559420
ABSTRACT
Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein 290 (CEP290) were treated (ClinicalTrials.gov no. NCT03140969 ) with intravitreal injections of an antisense oligonucleotide to restore correct splicing. There were no serious adverse events, and vision improved at 3 months. The visual acuity of one exceptional responder improved from light perception to 20/400.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Visão Ocular / Oligonucleotídeos Antissenso / Cílios / Células Fotorreceptoras de Vertebrados / Amaurose Congênita de Leber Limite: Adult / Female / Humans / Male Idioma: En Revista: Nat Med Assunto da revista: BIOLOGIA MOLECULAR / MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Visão Ocular / Oligonucleotídeos Antissenso / Cílios / Células Fotorreceptoras de Vertebrados / Amaurose Congênita de Leber Limite: Adult / Female / Humans / Male Idioma: En Revista: Nat Med Assunto da revista: BIOLOGIA MOLECULAR / MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos