Open Access<p>Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date</p>
Author(s) -
Srikanta Kumar Padhy,
Brijesh Takkar,
Raja Narayanan,
Pradeep Venkatesh,
Subhadra Jalali
Publication year - 2020
Publication title -
application of clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 32
ISSN - 1178-704X
DOI - 10.2147/tacg.s230720
Subject(s) - rpe65 , genetic enhancement , medicine , blindness , gene delivery , bioinformatics , gene , genetics , optometry , biology
Gene therapy has now evolved as the upcoming modality for management of many disorders, both inheritable and non-inheritable. Knowledge of genetics pertaining to a disease has therefore become paramount for physicians across most specialities. Inheritable retinal dystrophies (IRDs) are notorious for progressive and relentless vision loss, frequently culminating in complete blindness in both eyes. Leber's congenital amaurosis (LCA) is a typical example of an IRD that manifests very early in childhood. Research in gene therapy has led to the development and approval of voretigene neparvovec (VN) for use in patients of LCA with a deficient biallelic RPE65 gene. The procedure involves delivery of a recombinant virus vector that carries the RPE65 gene in the subretinal space. This comprehensive review reports the evidence thus far in support of gene therapy for LCA. We explore and compare the various gene targets including but not limited to RPE65 , and discuss the choice of vector and method for ocular delivery. The review details the evolution of gene therapy with VN in a phased manner, concluding with the challenges that lie ahead for its translation for use in communities that differ much both genetically and economically.