Progress in treating inherited retinal diseases : Early subretinal gene therapy clinical trials and candidates for future initiatives

Copyright © 2019 The Author(s). Published by Elsevier Ltd.. All rights reserved..

Due to improved phenotyping and genetic characterization, the field of 'incurable' and 'blinding' inherited retinal diseases (IRDs) has moved substantially forward. Decades of ascertainment of IRD patient data from Philadelphia and Toronto centers illustrate the progress from Mendelian genetic types to molecular diagnoses. Molecular genetics have been used not only to clarify diagnoses and to direct counseling but also to enable the first clinical trials of gene-based treatment in these diseases. An overview of the recent reports of gene augmentation clinical trials by subretinal injections is used to reflect on the reasons why there has been limited success in this early venture into therapy. These first-in human experiences have taught that there is a need for advancing the techniques of delivery of the gene products - not only for refining further subretinal trials, but also for evaluating intravitreal delivery. Candidate IRDs for intravitreal gene delivery are then suggested to illustrate some of the disorders that may be amenable to improvement of remaining central vision with the least photoreceptor trauma. A more detailed understanding of the human IRDs to be considered for therapy and the calculated potential for efficacy should be among the routine prerequisites for initiating a clinical trial.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:77

Enthalten in:

Progress in retinal and eye research - 77(2020) vom: 30. Juli, Seite 100827

Sprache:

Englisch

Beteiligte Personen:

Garafalo, Alexandra V [VerfasserIn]
Cideciyan, Artur V [VerfasserIn]
Héon, Elise [VerfasserIn]
Sheplock, Rebecca [VerfasserIn]
Pearson, Alexander [VerfasserIn]
WeiYang Yu, Caberry [VerfasserIn]
Sumaroka, Alexander [VerfasserIn]
Aguirre, Gustavo D [VerfasserIn]
Jacobson, Samuel G [VerfasserIn]

Links:

Volltext

Themen:

ABCA4
BCM
CNGA3
CNGB3
Gene therapy
Genetic retinal degenerations
Journal Article
Leber congenital amaurosis
MERTK
MYO7A
Molecular mechanisms
NPHP5
OPN1LW
OPN1MW
PDE6B
REP1
RLBP1
RPE65
RPGR
RPGRIP1
Research Support, N.I.H., Extramural
Retinitis pigmentosa
Review
TULP1

Anmerkungen:

Date Completed 11.12.2020

Date Revised 03.11.2023

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1016/j.preteyeres.2019.100827

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM304988812