AIPL1-associated Retinal Dystrophy (Leber congenital amaurosis 4)

Leber congenital amaurosis (LCA) is a rare inherited retinal disease (IRD) that causes the degeneration of the cone and rod cells in the retina. It is characterized by severe vision loss at birth/early infancy and is one of the commonest causes of legal blindness in childhood. There is a wide range of severity at birth/early infancy, ranging from light perception to useful central vision; with variable rate of progression over time, LCA is estimated to occur in about 1 in 33,000 people. There are more than 30 genes that cause LCA.

AAV-AIPL1 is an investigational genetic medicine for the treatment of one of the most severe forms of Leber congenital amaurosis (LCA) owing to genetic deficiency of Aryl-hydrocarbon-interacting protein-like 1 (AIPL1).

AAV-AIPL1 is manufactured and released for compassionate use by MeiraGTx under a Specials license in the UK.

MeiraGTx has the only gene therapy manufacturing facility in the UK with a ‘Specials License’ allowing us to supply physician led studies outside of commercial clinical development for rare degenerative disorders with no other treatment options.

Our Approach

We are developing AAV-AIPL1 to deliver the intact AIPL1 gene to cone and rod photoreceptors in the central retina to restore vision and slow further degeneration in children with LCA4 congenital blindness. AAV-AIPL1 is delivered via a one-time subretinal injection.

Meaningful responses have been observed in 11 out of 11 LCA4 children treated to date with AAV-AIPL1. All children were treated between 1 and 4 years old, all were legally blind before treatment, and all gained visual acuity 4 or more weeks following treatment.

AAV-AIPL1 was granted orphan drug and RPDD designations by the FDA and orphan designation by the European Commission.