Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33795869.
- Also identified by DOI 10.1038/s41591-021-01297-7 and PMC identifier 8127404.
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Abstract
Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with the antisense oligonucleotide (AON) sepofarsen. One patient who was part of a larger cohort (ClinicalTrials.gov NCT03140969 ) was studied for 15 months after a single intravitreal sepofarsen injection. Concordant measures of visual function and retinal structure reached a substantial efficacy peak near 3 months after injection. At 15 months, there was sustained efficacy, even though there was evidence of reduction from peak response. Efficacy kinetics can be explained by the balance of AON-driven new CEP290 protein synthesis and a slow natural rate of CEP290 protein degradation in human foveal cone photoreceptors.
Medical subject headings
- Antigens, Neoplasm
- Cell Cycle Proteins
- Ciliopathies
- Cytoskeletal Proteins
- Genetic Therapy
- Leber Congenital Amaurosis
- Oligonucleotides, Antisense