Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy.

Molecular Diagnosis & Therapy
Connie Kang, Lesley J Scott

Abstract

Voretigene neparvovec (Luxturna®), a recombinant adeno-associated virus vector-based gene therapy, delivers a functioning copy of the human retinal pigment epithelium-specific 65 kDa (RPE65) gene into retinal cells of patients with reduced or absent levels of RPE65 protein, providing the potential to restore the visual cycle. A single-dose subretinal injection of voretigene neparvovec administered in each eye is approved in several countries worldwide for the treatment of vision loss in adult and paediatric patients with confirmed biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD) and with sufficient viable retinal cells. In the pivotal phase III trial, significant improvements from baseline were seen in the mean bilateral multi-luminance mobility test scores in the voretigene neparvovec group compared with the control group at 1 year. The beneficial effects of voretigene neparvovec treatment were maintained after up to 4 years of follow-up (with follow-up continuing for 15 years). Control recipients were eligible to receive voretigene neparvovec at 1 year, and showed improvements at subsequent follow-ups (≤ 3 years post injection) consistent with those in patients who received voretigene neparvovec at baseli...Continue Reading

References

Sep 14, 2006·Annual Review of Pharmacology and Toxicology·Gabriel H TravisKrzysztof Palczewski
Feb 11, 2015·Investigative Ophthalmology & Visual Science·Debra A ThompsonUNKNOWN Monaciano Consortium
Dec 3, 2015·European Journal of Human Genetics : EJHG·Galuh D N AstutiFrans P M Cremers
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Feb 4, 2019·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Marita ZimmermannJosh Carlson
Feb 4, 2019·Drug Discovery Today·Jonathan J Darrow

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Citations

Dec 12, 2020·Computational and Structural Biotechnology Journal·Marian Tsanov
Mar 5, 2021·Journal of Virology·Sean M CrossonShannon E Boye
Jul 21, 2021·International Journal of Molecular Sciences·Céline KosterArthur A Bergen

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Methods Mentioned

BETA
transgenic
transfection

Software Mentioned

LUXTURNA

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