Washington - It’s called Repistat, a new molecule capable of slowing the progression of retinitis pigmentosa, a rare genetic disorder that can lead to complete blindness over time. This discovery comes from a study that earned the cover of the Journal of Medicinal Chemistry. The molecule was designed and synthesized by a pharmaceutical chemistry research team at the University of Siena, in collaboration with the Department of Pharmacy at the University of Pisa for biological testing, as well as with the Institute of Neurosciences of the CNR in Pisa, University College London, and the University of Ferrara. The experimentation was conducted in vitro and on animal models, with the hope that Repistat might eventually be used to formulate a new drug, perhaps an eye drop, capable of delaying the disease's progression.

“Retinitis pigmentosa is a rare genetic disease still lacking a definitive cure; it is caused by about 200 mutations across around sixty genes. The most effective treatment is gene therapy, but this is extremely costly, so currently, therapies have been developed for only two mutations,” explains Professor Ilaria Piano from the Department of Pharmacy at the University of Pisa. “However, there are elements common to all forms of retinitis pigmentosa, such as inflammatory and oxidative processes, as well as apoptosis—the mechanism that regulates programmed cell death. The molecule we developed acts as an epigenetic modulator, and through this mechanism, it intervenes precisely on these processes, opening up an opportunity to treat patients on a large scale, regardless of genetic mutation.”

This research is the result of RePiSTOP, a 2022 national research project funded by the Ministry of University and Research.