CEP290

Aktif Klinik Çalışmalar

EDIT-101 (Editas Medicine) — the first in vivo CRISPR therapy given to humans (BRILLIANCE trial). It proved the concept: no serious treatment-related adverse events, with a meaningful vision improvement in 9 of 14 participants in at least one measure and cone-vision gains in 6 (Pierce et al., NEJM 2024). However, Editas paused enrollment in November 2022 and — because only ~300 people in the US are homozygous for the target CEP290 IVS26 variant — chose not to advance EDIT-101 on its own, and has been seeking a development partner; the program is not currently progressing. Sepofarsen (Sepul Bio/Théa) — an antisense RNA therapy for the CEP290 IVS26 variant given by repeated intravitreal injection; its first pivotal trial (ILLUMINATE) missed its primary endpoint in 2022, and a redesigned paired-eye Phase 3 (HYPERION) began in 2025 (first participant dosed Oct 2025).