1. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
- Author
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Patricia Biasutto, Alejandro J. Roman, Magali Taiel, Michael E. Cheetham, Julie De Zaeytijd, Artur V. Cideciyan, Ian C. Han, Michael R. Schwartz, Alexandra V. Garafalo, David M. Rodman, Maria D. Tome, Alexander Sumaroka, Arlene V. Drack, Wilma de Wit, Irina Balikova, Allen C. Ho, Stephen R. Russell, Fanny Nerinckx, Peter Adamson, Caroline Van Cauwenbergh, Wanda L. Pfeifer, Maria D. Hochstedler, Bart P. Leroy, Samuel G. Jacobson, Elliott H. Sohn, Gerard Platenburg, and Jason Charng
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Visual acuity ,genetic structures ,Oligonucleotide ,business.industry ,Childhood blindness ,General Medicine ,medicine.disease ,Ciliopathies ,eye diseases ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,Ciliopathy ,030104 developmental biology ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Ophthalmology ,RNA splicing ,medicine ,medicine.symptom ,Allele ,business ,Gene - 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. RNA antisense oligonucleotide therapy to restore normal splicing of a ciliopathy gene shows promising safety and efficacy results in a clinical trial to treat a form of childhood blindness.
- Published
- 2018