Journal article
Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy
- Abstract:
- gene encodes REP1, a protein involved in the prenylation of Rab GTPases essential for intracellular vesicle trafficking. Adeno-associated viral gene therapy has demonstrated some benefit in clinical trials for choroideremia. However, challenges remain in gaining regulatory approval. Choroideremia is slowly progressive, which presents difficulties in demonstrating benefit over short pivotal clinical trials that usually run for 1-2 years. Improvements in visual acuity are particularly challenging due to the initial negative effects of surgical detachment of the fovea. Despite these challenges, great progress toward a treatment has been made since choroideremia was first described in 1872.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 9.3MB, Terms of use)
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- Publisher copy:
- 10.1101/cshperspect.a041279
Authors
- Publisher:
- Cold Spring Harbor Laboratory
- Journal:
- Cold Spring Harbor Perspectives in Medicine More from this journal
- Volume:
- 13
- Issue:
- 12
- Pages:
- a041279-a041279
- Publication date:
- 2023-06-05
- DOI:
- ISSN:
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0079-1024
- Language:
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English
- Keywords:
- Pubs id:
-
1357944
- Local pid:
-
pubs:1357944
- Source identifiers:
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W4379377529
- Deposit date:
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2026-05-08
- ARK identifier:
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- Copyright date:
- 2023
- Licence:
- Other
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