REPISTAT is a new molecule capable of slowing the progression of Retinitis Pigmentosa, a rare genetic disease that can lead to complete blindness over the years. The discovery was made in a study entitled “Targeting Relevant HDACs to Support the Survival of Cone Photoreceptors in Inherited Retinal Diseases: Identification of a Potent Pharmacological Tool with In Vitro and In Vivo Efficacy”, which was selected for the cover of the Journal of Medicinal Chemistry. The molecule was designed and synthesised by a pharmaceutical chemistry research group for biological testing at the University of Siena, in collaboration with the Department of Pharmacy at the University of Pisa, and with the CNR Institute of Neuroscience in Pisa, University College London and the University of Ferrara.
The tests were carried out in vitro and in animal models, and it is hoped that in the future REPISTAT will form the basis of a new drug formulation, perhaps in the form of an eye drop, capable of delaying the progression of the disease.
“Retinitis Pigmentosa is a rare genetic disease for which there is still no definitive cure, caused by about 200 mutations in about sixty genes. The most effective treatment is gene therapy, which is very expensive, and for this reason only a few therapies have currently been developed for just two of said 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 or apoptosis, i.e. the mechanism that regulates programmed cell death. The molecule we have developed can act as an epigenetic modulator and intervene in these processes through this mechanism, opening up the possibility of treating patients on a large scale, regardless of the gene mutation”.
The research is the result of RePiSTOP, a 2022 research project of national interest funded by the Ministry of University and Research.