Media release

From: The Lancet

The Lancet: First-in-human preliminary study suggests gene therapy for children with rare genetic eye condition is safe and well-tolerated; future studies needed to confirm effectiveness

A novel gene therapy used to treat a rare inherited eye disease (retinal dystrophy) that causes severe eyesight impairment in children is safe and well-tolerated, according to a paper published in The Lancet. The paper outlines the results of the first-in-human gene therapy performed in four children with the disease, and while the results are preliminary, they suggest the therapy may improve vision and slow retinal deterioration, though further larger studies are needed to confirm the effectiveness of the treatment.

Early-onset inherited eye diseases affecting the retina cause severe sight impairment in infants. A rare form of the disease is caused by a genetic deficiency of an important protein (AIPL1) in retinal cells for healthy vision. For those with AIPL1 deficiency, no specific treatment is currently available and gene supplementation therapy offers the highest likelihood of benefit.

The gene therapy was administered in one eye of each child to compare the effects of therapy between treated and untreated eyes. Upon follow-up with the children three to four years after treatment, the treated eyes saw an improvement in vision, and in the untreated eyes, vision was significantly reduced. While the results of the trial suggest the treatment was safe and well tolerated in these young children, the authors highlight the low number of individuals treated and the challenges of measuring visual function reliably in young children with severe sight impairment limit the current strength of the evidence of its effectiveness.