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Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial

Abstract:

Choroideremia is a rare, X-linked retinal degeneration resulting in progressive vision loss. A randomized, masked, phase 3 clinical trial evaluated the safety and efficacy over 12 months of follow-up in adult males with choroideremia randomized to receive a high-dose (1.0 × 1011 vector genomes (vg); n = 69) or low-dose (1.0 × 1010 vg; n = 34) subretinal injection of the AAV2-vector-based gene therapy timrepigene emparvovec versus non-treated control (n = 66). Most treatment-emergent adverse events were mild or moderate. The trial did not meet its primary endpoint of best-corrected visual acuity (BCVA) improvement. In the primary endpoint analysis, three of 65 participants (5%) in the high-dose group, one of 34 (3%) participants in the low-dose group and zero of 62 (0%) participants in the control group had ≥15-letter Early Treatment Diabetic Retinopathy Study (ETDRS) improvement from baseline BCVA at 12 months (high dose, P = 0.245 versus control; low dose, P = 0.354 versus control). As the primary endpoint was not met, key secondary endpoints were not tested for significance. In a key secondary endpoint, nine of 65 (14%), six of 35 (18%) and one of 62 (2%) participants in the high-dose, low-dose and control groups, respectively, experienced ≥10-letter ETDRS improvement from baseline BCVA at 12 months. Potential opportunities to enhance future gene therapy studies for choroideremia include optimization of entry criteria (more preserved retinal area), surgical techniques and clinical endpoints. EudraCT registration: 2015-003958-41.

Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41591-023-02520-3

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Oxford college:
Merton College
Role:
Author
ORCID:
0000-0002-3096-4682


Publisher:
Springer Nature
Journal:
Nature Medicine More from this journal
Volume:
29
Issue:
10
Pages:
2464-2472
Publication date:
2023-10-09
Acceptance date:
2023-07-28
DOI:
EISSN:
1546-170X
ISSN:
1078-8956
Pmid:
37814062


Language:
English
Keywords:
Pubs id:
1544537
Local pid:
pubs:1544537
Deposit date:
2024-07-07

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