AIPL1-associated Retinal Dystrophy (Leber congenital amaurosis 4)

Data published in The Lancet February 20, 2025.

Watch the MeiraGTx webcast discussing the data at 8am ET here.

See our full February 21 announcement here.

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 made available under MHRA Specials License.

MeiraGTx has the only genetic medicine 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 rare pediatric disease designations by the FDA and orphan designation by the European Commission.