Penn researchers develop gene therapy for eye disorder

Penn researchers develop gene therapy for eye disorder

A future clinical trial would measure how effective the treatment is, which is needed for them to submit the treatment for FDA approval. Even though the main purpose of the first clinical trial was not to measure the treatment’s effectiveness, there were some promising findings. For instance, nine patients got a high dose of the therapy and their ability to sense light increased by around a hundredfold.

To explain what this means, Cideciyan said imagine that a patient could previously only see inside a well-lit indoor office environment, and would struggle with any environment that is not as brightly lit. With a hundredfold increase in their ability to sense light, the same person can now see even in the ambient mood lighting of a restaurant.

If the gene therapy works, it would be the first treatment for this condition, said Nieraj Jain, associate professor of ophthalmology at Emory University, who was not a part of the research but sees patients with LCA type 1.

“This is a great development for our field and for patients affected by this rare disease,” Jain said. “You could have individuals who go from really not being able to navigate their environment, or particularly in dimly lit settings, to being able to get around even when the ambient lighting is dim.”

Jain said right now, he and his colleagues can give counseling and support for patients with LCA type 1 to understand how the disease will play out, and connect them with low vision specialists and occupational therapists who can educate them on using visual aids, such as a white navigational cane.

He added that one potential hurdle that this new gene therapy faces is coming up with a measure that the FDA can use to decide how effective the treatment is. He explained that in The Lancet article, the researchers measured what is the dimmest light that a patient can detect, which he says the FDA has traditionally not considered a meaningful outcome they can use to approve a new therapy.

For instance, the team behind Luxturna, the gene therapy that the FDA approved seven years ago, came up with a new measure called a mobility test, which measured how well a patient was able to get through a maze in a lab at different levels of light.

“I can’t speak for (the FDA), but they’re really going after endpoints that are … clinically meaningful,” Jain said. “You can show on a spreadsheet that certain outcome measures are improving, that the statistics look a bit better, but the end result is most important: Is the patient really best served? Are they really deriving a clinically meaningful benefit from this new therapy?”

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