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WhatIsLCA
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LCA4

AIPL1

Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1); a specialized chaperone protein essential for assembly and stability of PDE6 (phosphodiesterase 6) holoenzyme in photoreceptors. Contains FKBP-like and TPR domains. Interacts with HSP90 and NUB1. Required for both rod and cone photoreceptor survival. First identified in 2000 by Sohocki et al.

Active Clinical Trials

MeiraGTx rAAV8.hRKp.AIPL1 — First-in-human results (Lancet 2025): all 11 children aged 1-4 gained visual acuity with no serious adverse effects. Preclinical proof-of-concept in knockout mice (Tan/Ali, JCI 2009). The therapy now carries the international nonproprietary name meduretgene parvec (medu-vec); MeiraGTx licensed worldwide rights to Eli Lilly (Nov 2025; $75M upfront, up to ~$475M in milestones plus tiered royalties) to advance it toward regulatory filing (MAA/BLA). A separate academic AIPL1 gene-therapy trial (LX107) is recruiting in China.

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Chromosomal Locus

17p13.2

Inheritance

Autosomal Recessive

Frequency

1-2% of LCA cases

OMIM #604393

Key Clinical Features

  • 1Early profound vision loss — one of the most severe LCA subtypes
  • 2Rapid photoreceptor degeneration from birth due to PDE6 loss
  • 3Relative preservation of outer retina before age 4 (narrow therapeutic window)
  • 4Progressive total macular atrophy
  • 5Both rod and cone function severely affected from infancy
  • 6AIPL1 functions as a PDE6 chaperone — loss of AIPL1 leads to near-complete PDE6 degradation
  • 7Gene therapy must be delivered very early (ages 1-4) to be effective

Clinical Trials

AIPL1 Gene Therapy First-in-Human Study

MeiraGTx / UCL / GOSH · Phase 1/2

Completed (11 children treated)
ClinicalTrials.gov: NCT03252847

LX107 Gene Therapy in AIPL1-IRD Patients

Shanghai General Hospital / Shanghai Jiao Tong University · Early Phase 1

Recruiting
ClinicalTrials.gov: NCT07063030

Sources: