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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). A global pivotal Phase 3 (sites across the US, Europe and Japan) is expected to start later in 2026. Nippon Shinyaku exclusive U.S./Japan rights (Nov 2024). Holds FDA RMAT, Orphan Drug and Rare Pediatric Disease designations, plus EMA orphan designation (Jul 2026). Founded by Shannon Boye (CSO) at Atsena Therapeutics, based on UF preclinical work (2010).

Kaynaklı ve atıflı — henüz uzman incelemesinden geçmedi

Buradaki her ifade atıf yapılan birincil bir kaynağa dayanır, ancak bu sayfa henüz bir uzman tarafından resmi olarak incelenmedi.

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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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