Study shows efficacy of gene therapy in preschool children with LCA2
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ROME — Voretigene neparvovec proved successful as a treatment for Leber congenital amaurosis 2 in preschool children, as shown by a study presented at the FLORetina-ICOOR meeting.
The study was carried out at the University of Munich in a group of five children with molecularly confirmed RPE65 mutation-associated Leber congenital amaurosis 2 (LCA2), the youngest to be treated with Luxturna (voretigene neparvovec, Novartis) in Germany so far.
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“There are challenges in delivering this treatment in children,” Siegfried G. Priglinger, MD, PhD, said. The pars plana is different, the sclera is thinner, the retina is fragile, and posterior vitreous detachment is more difficult to perform because the vitreous is more adherent, he said.
Also, measuring visual acuity and evaluating other visual parameters are difficult at this age. Surgery, he said, is only the first step of treatment. Further care is rather challenging and may entail the treatment of amblyopia and various other complications.
The treatment was successfully delivered in all five children, and the outcomes were rewarding.
Preoperatively, most of the children were incapable of eye contact since birth and were constantly and conspicuously looking toward light sources such as windows and lamps. They showed disorientation and insecurity in the twilight and in the dark, were clumsy, and had difficulty catching balls.
“Just a few weeks after gene therapy, they are significantly better orientated in the twilight, additional light sources in the room are no longer necessary, the grip is more secure, and an increased field of view is observed while playing,” Priglinger said.
Videos demonstrated the progress of these children in recognizing chart symbols, and one child, 3 months after surgery, was shown to cycle alone along a route in the dark without any help.
Objective parameters also showed improvement, with significant visual acuity gain in all children except one, with the highest gain in one child who achieved 20/20 vision. Visual field testing, due to the young age, was possible in only two children, aged 4 years and 5 years, and showed marked enlargement after the treatment.
No case of chorioretinal atrophy was reported, but one case of atrophy of the retinal outer layer occurred at the injection site. It was first seen 4 weeks after the treatment, with no change until the last follow-up visit at 32 months.
“In summary, voretigene neparvovec is an effective approach for RPE65-associated [inherited retinal disease],” Priglinger said. “But keep in mind there is a point of no return. So, it’s mandatory that we treat these kids as early as possible.”
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Priglinger S. The potential of gene therapy in preschool age. Presented at: FLORetina-ICOOR; Nov. 30-Dec. 3, 2023; Rome.
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