LCA10

CEP290

Centrosomal/ciliary protein; critical for photoreceptor cilium structure and function

Active Clinical Trials

EDIT-101 (Editas Medicine) — first in vivo CRISPR therapy, BRILLIANCE trial (enrollment paused). Sepofarsen (Sepul Bio) RNA therapy — HYPERION Phase 3 initiated Oct 2025.

Chromosomal Locus

12q21.32

Inheritance

Autosomal Recessive

Frequency

15-20% of LCA cases

OMIM #611755

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

Enrollment paused

ClinicalTrials.gov: NCT03872479

Sepofarsen RNA Therapy (HYPERION Phase 3)

Sepul Bio / Thea · Phase 3

Recruiting

ClinicalTrials.gov: NCT06891443

Sepofarsen Phase 1b/2

ProQR Therapeutics · Phase 1b/2

Completed

ClinicalTrials.gov: NCT03140969EudraCT: 2017-000813-22

Sepofarsen ILLUMINATE (Phase 2/3)

ProQR Therapeutics · Phase 2/3

Completed (did not meet primary endpoint)

ClinicalTrials.gov: NCT03913143EudraCT: 2018-003501-25

Syndromic Associations

Patients with CEP290 mutations should be monitored for potential involvement of other organs:

Joubert syndrome
Bardet-Biedl syndrome
Nephronophthisis
Senior-Loken syndrome

Sources: