CEP290
Centrosomal/ciliary protein; critical for photoreceptor cilium structure and function
Active Clinical Trials
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).
Sourced & cited — not yet expert-reviewed
Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page yet.
12q21.32
Autosomal Recessive
15-20% of LCA cases
Key Clinical Features
- 1Most common LCA subtype (15-20%)
- 2Significant variability in severity
- 3Fundus can be relatively normal in infancy
- 4Residual outer retinal structure often present until 4th decade
Clinical Trials
EDIT-101 CRISPR Gene Editing (BRILLIANCE Trial)
Editas Medicine · Phase 1/2
Sepofarsen RNA Therapy (HYPERION Phase 3)
Sepul Bio / Thea · Phase 3
Sepofarsen Phase 1b/2
ProQR Therapeutics · Phase 1b/2
Sepofarsen ILLUMINATE (Phase 2/3)
ProQR Therapeutics · Phase 2/3
Syndromic Associations
Patients with CEP290 mutations should be monitored for potential involvement of other organs:
- Joubert syndrome
- Bardet-Biedl syndrome
- Nephronophthisis
- Senior-Loken syndrome