Gene therapy injected into the eyeball restores the blind patient’s vision

A blind patient regained his vision for over a year after receiving a single injection of experimental gene therapy directly into his eye.

The treatment uses RNA molecules that can infiltrate cells and reverse a specific mutation linked to Leber’s congenital amaurosis, an eye disease that causes blindness early in life, according to a study published in the journal Thursday. Nature medicine. And it’s interesting that the researchers at the University of Pennsylvania School of Medicine behind the treatment discovered its long-term effects largely by accident.

The mutation behind Leber’s congenital amaurosis prevents cells from making the CEP290 protein, which is crucial for photoreceptor cells in the eye. The treatment introduces RNA into these cells and triggers the production of CEP290, essentially reversing the mutation for months at a time.

Researchers first tested this gene therapy in 2019, according to a press release on the study, in an earlier experiment where patients were injected every three months. These patients saw continuous improvement in their eyesight because the RNA was repeatedly replenished. But one participant only received the initial injection and then backed down due to concerns about potential side effects.

And how lucky they were. The new study focuses only on this patient and shows that the restored eyesight peaked a full two months after the injection and lasted for more than 15 months – long-term trends that were masked by the other patients’ repeated treatments. .

As the study authors explain in the press release, this is a good sign for this specific treatment and the field of RNA-based gene therapy in general. Longer lasting benefits would not only potentially reduce the medical bills associated with repeated injections, but give scientists working on other conditions a promising avenue to explore for their own gene therapies.

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