RNA Therapy Improves Vision in Untreatable Genetic Blindness

Labiotech.eu | October 11, 2019

A phase I/II trial run by the Dutch company ProQR has found that its RNA therapy could significantly improve the vision of people with Leber’s congenital amaurosis, a rare genetic disease for which there is no treatment. The RNA drug, called sepofarsen, is designed to treat people with a specific mutation in a gene called CEP290. This mutation causes the RNA transcript of the gene to have the wrong three-dimensional structure, blocking its translation into a protein. This, in turn, causes vision loss in the first few years of life. Sepofarsen is an RNA molecule that specifically binds to the faulty RNA transcript to stabilize its structure and allow the retinal cells to produce the protein. The effects of the drug were stronger on patients that had a certain level of visual acuity to start with. These are ultimately the target population of ProQR, which is already running a phase II/III study that will follow the response of 30 patients over the course of 2 years. Results from that trial are expected in 2021 and will inform whether the FDA and the EMA approve the drug or not.

Spotlight

This technical note demonstrates the comprehensive
characterization and confident identification of glucuronide
metabolites from hepatocyte incubations of midazolam. An
orthogonal fragmentation mechanism was applied to generate diagnostic fragment ions for confident identification of glucuronide metabolites

Spotlight

This technical note demonstrates the comprehensive
characterization and confident identification of glucuronide
metabolites from hepatocyte incubations of midazolam. An
orthogonal fragmentation mechanism was applied to generate diagnostic fragment ions for confident identification of glucuronide metabolites

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