Gene Editing for CEP290 -Associated Retinal Degeneration
Open accessAbstract
Background CEP290 -associated inherited retinal degeneration causes severe early-onset vision loss due to pathogenic variants in CEP290 . EDIT-101 is a clustered regularly interspaced short palindromic repeats (CRISPR)–CRISPR-associated protein 9 (Cas9) gene-editing complex designed to treat inherited retinal degeneration caused by a specific damaging variant in intron 26 of CEP290 (IVS26 variant). Methods We performed a phase 1–2, open-label, single-ascending-dose study in which persons 3 years of age or older with CEP290 -associated inherited retinal degeneration caused by a homozygous or compound heterozygous IVS26 variant received a subretinal injection of EDIT-101 in the worse (study) eye. The primary outcome was safety, which included adverse events and dose-limiting toxic effects. Key secondary efficacy outcomes were the change from baseline in the best corrected visual acuity, the retinal sensitivity detected with the use of full-field stimulus testing (FST), the score on the Ora–Visual Navigation Challenge mobility test, and the vision-related quality-of-life score on the National Eye Institute Visual Function Questionnaire–25 (in adults) or the Children’s Visual Function Questionnaire (in children). Results EDIT-101 was injected in 12 adults 17 to 63 years of age (median, 37 years) at a low dose (in 2 participants), an intermediate dose (in 5), or a high dose (in 5) and in 2 children 9 and 14 years of age at the intermediate dose. At baseline, the median best corrected visual acuity in the study eye was 2.4 log 10 of the minimum angle of resolution (range, 3.9 to 0.6). No serious adverse events related to the treatment or procedure and no dose-limiting toxic effects were recorded. Six participants had a meaningful improvement from baseline in cone-mediated vision as assessed with the use of FST, of whom 5 had improvement in at least one other key secondary outcome. Nine participants (64%) had a meaningful improvement from baseline in the best corrected visual acuity, the sensitivity to red light as measured with FST, or the score on the mobility test. Six participants had a meaningful improvement from baseline in the vision-related quality-of-life score. Conclusions The safety profile and improvements in photoreceptor function after EDIT-101 treatment in this small phase 1–2 study support further research of in vivo CRISPR-Cas9 gene editing to treat inherited retinal degenerations due to the IVS26 variant of CEP290 and other genetic causes. (Funded by Editas Medicine and others; BRILLIANCE ClinicalTrials.gov number, NCT03872479 .)
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The doses of AAV vectors that have been used in retinal gene therapy trials have ranged from ~1 × 10^8 up to ~3 × 10^12 vg/eye.
“The doses of AAV vectors that have been used in retinal gene therapy trials have ranged from ~1 × 10 8 (Heier et al., 2017) up to ~3 × 10 12 vg/eye (Yang et al., 2022; Pierce et al., 2024).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Pierce et al., 2024
The Methods (Participants and Treatment; page not provided) give the high dose as 3 × 10^12 vg per milliliter, not per eye, and specify an injection of up to 300 μl into one eye. That permits at most 9 × 10^11 vg per eye for this trial, contrary to the upper-end figure attributed to Pierce et al. The lower-end figure is attributed to a different source and is not judged here. (LLM, conf=0.88)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredEDIT-101, comprising an AAV5 vector encoding Staphylococcus aureus Cas9 and two guide RNAs targeting CEP290 associated with LCA, was well tolerated at relatively high vector doses.
“In a groundbreaking first-in-human study, EDIT-101 (Editas, Cambridge, Massachusetts, USA), comprising an AAV5 vector encoding Staphylococcus aureus Cas9 and two guide RNAs targeting CEP290 associated with LCA, was well tolerated at relatively high vector doses (Pierce et al., 2024).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Pierce et al., 2024
In humans, EDIT-101 has demonstrated a positive safety profile and variable effectiveness of visual functional outcomes (retinal sensitivity, visual acuity, Ora-Visual Navigation Challenge) in Phase 1/2 of a small cohort of 14 participants (NCT03872479), which is ongoing with a larger cohort (34 participants) to confirm efficacy.
“In humans, EDIT-101 has demonstrated a positive safety profile and variable effectiveness of visual functional outcomes (retinal sensitivity, visual acuity, Ora–Visual Navigation Challenge) in Phase 1/2 of a small cohort of 14 participants ( NCT03872479 ), 64 which is ongoing with a larger cohort (34 participants) to confirm efficacy ( Table 1 ).”
From Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches (2025) · cites this paper as [64]
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- Authors
- Pierce, E. A., Aleman, T. S., Jayasundera, K. T., Ashimatey, B. S., Kim, K., Rashid, A., Jaskolka, M. C., Myers, R. L., Lam, B. L., Bailey, S. T., Comander, J. I., Lauer, A. K., Maguire, A. M., & Pennesi, M. E.
- Affiliations
- Massachusetts Eye and Ear Infirmary (US)
- From the Ocular Genomics Institute, Department of Ophthalmology, Mass Eye and Ear and Harvard Medical School, Boston (E.A.P., J.I.C.), and Editas Medicine, Cambridge (B.S.A., K.K., A.R., M.C.J., R.L.M.) — both in Massachusetts; the Scheie Eye Institute and the Division of Ophthalmology of the Children’s Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (T.S.A., A.M.M.); the University of Michigan Kellogg Eye Center, Ann Arbor (K.T.J.); the Bascom Palmer Eye Institute, University of Miami, Miami (B.L.L.); and the Casey Eye Institute, Oregon Health and Science University, Portland (S.T.B., A.K.L., M.E.P.).
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2024-06-06
- Volume
- 390
- Issue
- 21
- Pages
- 1972-1984
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC11389875
- OpenAlex
- W4396676517
- Cited by
- 237
- References
- 41
- Citations by year
- 2026: 101 · 2025: 103 · 2024: 33
- FWCI
- 31.92
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Malcolm M. Marquis MD Endowed Fund for Innovation
- Research to Prevent Blindness
- Irene Heinz Given and John La Porte Given Endowment
- Hope For Vision
- National Eye Institute (P30 EY010572, P30 EY014104)
- Editas Medicine
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Keywords
- CRISPR/Cas9 genome editing, subretinal injection, photoreceptor function, best-corrected visual acuity, retinal sensitivity, vision-related quality of life, children, compound heterozygosity
- MeSH terms
- Gene Editing, Adolescent, Adult, Antigens, Neoplasm, Cytoskeletal Proteins, Female, Humans, Male, Middle Aged, Quality of Life, Retina, Retinal Degeneration, Visual Acuity, Genetic Therapy, Cell Cycle Proteins, Young Adult, Injections, Intraocular, CRISPR-Cas Systems
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