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Published on: December 11, 2020
Gene Editing for CEP290-Associated Retinal Degeneration
Eric A Pierce1, Tomas S Aleman1, Kanishka T Jayasundera1
1From 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.).
Gene editing with EDIT-101 shows promise for treating CEP290-associated inherited retinal degeneration. The study found EDIT-101 to be safe and observed meaningful improvements in vision and quality of life in participants.
Area of Science:
- Ophthalmology
- Genetics
- Biotechnology
Background:
- Inherited retinal degeneration linked to CEP290 pathogenic variants causes severe early-onset vision loss.
- A specific variant in intron 26 of CEP290 (IVS26 variant) is a target for gene editing therapies.
- EDIT-101 is a CRISPR-Cas9 gene-editing complex designed to correct the IVS26 variant.
Purpose of the Study:
- To evaluate the safety and efficacy of a single dose of EDIT-101 in patients with CEP290-associated inherited retinal degeneration.
- To assess changes in visual acuity, retinal sensitivity, mobility, and quality of life following EDIT-101 treatment.
Main Methods:
- A Phase 1-2, open-label, single-ascending-dose study was conducted.
- Participants aged 3 years and older with the IVS26 variant received subretinal injections of EDIT-101.
- Safety, best corrected visual acuity, full-field stimulus testing (FST), mobility, and quality of life were assessed.
Main Results:
- No serious adverse events or dose-limiting toxic effects were observed.
- Significant improvements in best corrected visual acuity were noted in 64% of participants.
- Meaningful improvements in vision-related quality of life and photoreceptor function were observed in several participants.
Conclusions:
- The safety profile and observed functional improvements support further investigation of EDIT-101.
- In vivo CRISPR-Cas9 gene editing is a viable strategy for treating inherited retinal degenerations caused by the CEP290 IVS26 variant.
- Further research is warranted to explore the potential of gene editing for other genetic causes of retinal degeneration.
