Gene therapy for RPE65-related retinal disease

被引：93

作者：

Utz, Virginia Miraldi ^{[1
,2
]}

Coussa, Razek Georges ^{[3
]}

Antaki, Fares ^{[4
]}

Traboulsi, Elias, I ^{[3
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Abrahamson Pediat Eye Inst, Cincinnati, OH 45229 USA

[2] Univ Cincinnati, Dept Ophthalmol, Cincinnati, OH USA

[3] Cleveland Clin, Cole Eye Inst, Cleveland, OH 44106 USA

[4] Univ Montreal, Dept Ophthalmol, Montreal, PQ, Canada

来源：

OPHTHALMIC GENETICS | 2018年 / 39卷 / 06期

关键词：

RPE65; gene therapy; Leber Congenital Amaurosis; voretigine neparvovec; clinical trials; LEBER CONGENITAL AMAUROSIS; MOLECULAR-GENETICS; CLINICAL-FEATURES; DOMINANT MUTATION; RPE65; MUTATIONS; VISUAL CYCLE; SAFETY; DYSTROPHY; VISION; EFFICACY;

D O I：

10.1080/13816810.2018.1533027

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA approved the commercial use of this pharmacologic agent in December 2017. In this perspective, ongoing and completed gene therapy trials for RPE65-related dystrophies are reviewed and challenges in patient selection, counseling and informed consent, as well as financial considerations of commercial treatment are discussed.

引用

页码：671 / 677

页数：7

共 41 条

[1] Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark [J].

Astuti, Galuh D. N. ;

Bertelsen, Mette ;

Preising, Markus N. ;

Ajmal, Muhammad ;

Lorenz, Birgit ;

Faradz, Sultana M. H. ;

Qamar, Raheel ;

Collin, Rob W. J. ;

Rosenberg, Thomas ;

Cremers, Frans P. M. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (07) :1071-1079

[2]

Avb D, 2018, AM ASS PED OPHTH STR

[3] Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis [J].

Bainbridge, J. W. B. ;

Mehat, M. S. ;

Sundaram, V. ;

Robbie, S. J. ;

Barker, S. E. ;

Ripamonti, C. ;

Georgiadis, A. ;

Mowat, F. M. ;

Beattie, S. G. ;

Gardner, P. J. ;

Feathers, K. L. ;

Luong, V. A. ;

Yzer, S. ;

Balaggan, K. ;

Viswanathan, A. ;

de Ravel, T. J. L. ;

Casteels, I. ;

Holder, G. E. ;

Tyler, N. ;

Fitzke, F. W. ;

Weleber, R. G. ;

Nardini, M. ;

Moore, A. T. ;

Thompson, D. A. ;

Petersen-Jones, S. M. ;

Michaelides, M. ;

van den Born, L. I. ;

Stockman, A. ;

Smith, A. J. ;

Rubin, G. ;

Ali, R. R. .

NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (20) :1887-1897

[4] Effect of gene therapy on visual function in Leber's congenital amaurosis [J].

Bainbridge, James W. B. ;

Smith, Alexander J. ;

Barker, Susie S. ;

Robbie, Scott ;

Henderson, Robert ;

Balaggan, Kamaljit ;

Viswanathan, Ananth ;

Holder, Graham E. ;

Stockman, Andrew ;

Tyler, Nick ;

Petersen-Jones, Simon ;

Bhattacharya, Shomi S. ;

Thrasher, Adrian J. ;

Fitzke, Fred W. ;

Carter, Barrie J. ;

Rubin, Gary S. ;

Moore, Anthony T. ;

Ali, Robin R. .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (21) :2231-2239

[5] 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 [J].

Bennett, Jean ;

Wellman, Jennifer ;

Marshall, Kathleen A. ;

McCague, Sarah ;

Ashtari, Manzar ;

DiStefano-Pappas, Julie ;

Elci, Okan U. ;

Chung, Daniel C. ;

Sun, Junwei ;

Wright, J. Fraser ;

Cross, Dominique R. ;

Aravand, Puya ;

Cyckowski, Laura L. ;

Bennicelli, Jeannette L. ;

Mingozzi, Federico ;

Auricchio, Alberto ;

Pierce, Eric A. ;

Ruggiero, Jason ;

Leroy, Bart P. ;

Simonelli, Francesca ;

High, Katherine A. ;

Maguire, Albert M. .

LANCET, 2016, 388 (10045) :661-672

[6]

Bowne SJ, 2011, EUR J HUM GENET, V19, P1074, DOI 10.1038/ejhg.2011.86

[7] RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy [J].

Cai, Xue ;

Conley, Shannon M. ;

Naash, Muna I. .

OPHTHALMIC GENETICS, 2009, 30 (02) :57-62

[8] Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement [J].

Cideciyan, Artur V. ;

Jacobson, Samuel G. ;

Beltran, William A. ;

Sumaroka, Alexander ;

Swider, Malgorzata ;

Iwabe, Simone ;

Roman, Alejandro J. ;

Olivares, Melani B. ;

Schwartz, Sharon B. ;

Komaromy, Andras M. ;

Hauswirth, William W. ;

Aguirre, Gustavo D. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (06) :E517-E525

[9] Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year [J].

Cideciyan, Artur V. ;

Hauswirth, William W. ;

Aleman, Tomas S. ;

Kaushal, Shalesh ;

Schwartz, Sharon B. ;

Boye, Sanford L. ;

Windsor, Elizabeth A. M. ;

Conlon, Thomas J. ;

Sumaroka, Alexander ;

Pang, Ji-jing ;

Roman, Alejandro J. ;

Byrne, Barry J. ;

Jacobson, Samuel G. .

HUMAN GENE THERAPY, 2009, 20 (09) :999-1004

[10] Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis [J].

Cideciyan, Artur V. ;

Hauswirth, William W. ;

Aleman, Tomas S. ;

Kaushal, Shalesh ;

Schwartz, Sharon B. ;

Boye, Sanford L. ;

Windsor, Elizabeth A. M. ;

Conlon, Thomas J. ;

Sumaroka, Alexander ;

Roman, Alejandro J. ;

Byrne, Barry J. ;

Jacobson, Samuel G. .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (07) :725-727

← 1 2 3 4 5 →