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LCA10

CEP290

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

Aktif Klinik Çalışmalar

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

Kromozomal Lokus

12q21.32

Kalıtım

Otozomal Resesif

Sıklık

15-20% LCA vakalarının

OMIM #611755

Temel Klinik Özellikler

  • 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

Klinik Çalışmalar

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

Sendromik İlişkiler

CEP290 mutasyonlu hastalar diğer organların olası tutulumu açısından izlenmelidir:

  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Nephronophthisis
  • Senior-Loken syndrome

Sources: