Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis.
FST
GVF
Gene therapy
Retinal degeneration
Retinal dystrophy
Journal
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
ISSN: 1435-702X
Titre abrégé: Graefes Arch Clin Exp Ophthalmol
Pays: Germany
ID NLM: 8205248
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
02
10
2021
accepted:
18
11
2021
revised:
11
11
2021
pubmed:
11
1
2022
medline:
16
4
2022
entrez:
10
1
2022
Statut:
ppublish
Résumé
To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants. A retrospective study of 27 eyes of 14 patients with RPE65-associated Leber congenital amaurosis examined postoperative complications and longitudinal changes in photoreceptor function following treatment with subretinal injection of voretigene neparvovec. Full-field stimulus threshold testing (FST), Goldmann visual fields (GVF), best-corrected visual acuity (BCVA), and central subfield thickness (CST) on optical coherence tomography (OCT) scans were collected preoperatively and up to 12 months posttreatment. Baseline through 6-12 month follow-up FST and GVF data were obtained for 13 eyes of 7 patients. FST improved for each eye after treatment with a mean improvement of 2.1 log-units (P < 0.001) and GVF improved for each eye with a mean improvement of 221 sum degrees (P < 0.001). BCVA improved from logMAR 0.98 at baseline to logMAR 0.83 at last follow-up (P < 0.001). Across 19 eyes of 10 patients included in CST analysis, there was a small but statistically significant 9-μ decrease in mean CST from baseline to last follow-up (P < 0.001). The most common postoperative issues included elevation in intraocular pressure (59%), persistent intraocular inflammation (15%), and vitreous opacities (26%) that resolved over a period of months. This report provides some of the earliest longitudinal real-world evidence of the pediatric safety and efficacy of voretigene neparvovec using multiple functional and structural measures of the retina. Outcomes demonstrate significant improvements in visual function consistent with clinical trial results.
Identifiants
pubmed: 35001204
doi: 10.1007/s00417-021-05508-2
pii: 10.1007/s00417-021-05508-2
pmc: PMC9010358
mid: NIHMS1766256
doi:
Substances chimiques
cis-trans-Isomerases
EC 5.2.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1543-1550Subventions
Organisme : NEI NIH HHS
ID : K08 EY032991
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY029675
Pays : United States
Organisme : Foundation Fighting Blindness
ID : CD-CL-0619-0758-UMICH
Pays : United States
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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