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WhatIsLCA
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LCA1

GUCY2D

Retinal guanylate cyclase 1 (RetGC1/GC-E); a key enzyme in the phototransduction cascade that synthesizes cGMP in photoreceptor outer segments. Essential for both rod and cone function. Regulated by GCAPs (guanylate cyclase-activating proteins) in a calcium-dependent manner. First LCA gene locus mapped (1995) and gene identified (Perrault et al. 1996).

Aktif Klinik Çalışmalar

ATSN-101 (Atsena/Nippon Shinyaku) — Phase 1/2 completed with 15 patients, clinically meaningful improvements at highest dose (Lancet 2024), with retinal-sensitivity gains durable through 3 years (ARVO 2026 abstract). Phase 3 global pivotal trial planned. Nippon Shinyaku exclusive U.S./Japan rights (Nov 2024). FDA RMAT + Orphan Drug + Rare Pediatric Disease designations. Founded by Shannon Boye (CSO) at Atsena Therapeutics, based on UF preclinical work (2010).

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Kromozomal Lokus

17p13.1

Kalıtım

Otozomal Resesif

Sıklık

10-20% LCA vakalarının

OMIM #204000

Temel Klinik Özellikler

  • 1Early profound vision loss — but with remarkably preserved retinal structure
  • 2Significant photophobia (light sensitivity)
  • 3Lack of color perception
  • 4Substantial residual rod-driven vision in some patients
  • 5Well-preserved macular anatomy on OCT — wide therapeutic window for gene therapy
  • 6Preserved postretinal pathways (optic nerve, visual cortex remain viable)
  • 7Hyperopia common
  • 8Residual cone vision correlates with biochemical activity of specific mutant alleles

Klinik Çalışmalar

ATSN-101 Gene Therapy for GUCY2D-LCA1 (Phase 1/2)

Atsena Therapeutics · Phase 1/2

Completed (15 patients treated)
ClinicalTrials.gov: NCT03920007

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