🧬This Breakthrough Study Reveals New Hope👁️

A rare cause of congenital (present at birth) vision loss is severe retinal dystrophy associated with the gene AIPL1. Until recently, this condition, like many other rare diseases, had no available treatment.

However, a recent study published in The Lancet has demonstrated the transformative potential of gene therapy to change this reality for children with AIPL1 mutations, which account for 5% of cases of this disease.

Study Objectives

Researchers evaluated the effects of gene therapy using a modified virus (called AAV or adeno-associated virus) in four children with AIPL1 mutations. The treatment was applied to one eye, and its progress was compared to the untreated eye over several years to assess its effectiveness.

Key findings

-Before treatment, the children could only perceive light. Three to four years after therapy, the treated eye showed significant visual improvement, while the untreated eye lost vision completely.

-Brain scans revealed increased activity in the area corresponding to the treated eye, confirming that the therapy works.

-No adverse effects were observed in any of the children.

Impact of the Results

Given these promising outcomes, the therapy is now being administered to the children’s other eyes. This expands the potential application of gene therapy for inherited retinal diseases, adding AIPL1 to RPE65, another gene for which gene therapy has already proven effective.

What are your thoughts on the future of gene therapy for Rare Diseases?

Exciting times lie ahead as gene therapy revolutionizes the prognosis of rare diseases!🧬✨

Reference

Michaelides M, Laich Y, Wong SC, et al. Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study. Lancet. 2025;405(10479):648-657.