Contribution to the Discovery of a Novel Medicine for a Neuromuscular Disease and of other Promising Molecules for the Treatment of Neurodevelopmental and Neurodegenerative Diseases


  • Hasane Ratni F.Hoffmann-La Roche





Medicine, SMA, V1a, GSM, risdiplam, evrysdi, CNS, drug


Nervous system disorders affect millions of people around the world, through a very broad range of diseases. Here we describe our contribution to find a treatment for patients suffering from three of those diseases. The first one, autism spectrum disorder (ASD), affects approximately one in every 59 children in US. The second one, spinal muscular atrophy (SMA) is a rare disease affecting one in 1 in 10000 live births worldwide, often leading to death if untreated. The third one, Alzheimer’s disease (AD) is a very well known devastating disease with an estimated 50 million people living with AD and other dementia, a number expected to triple by 2050. Our strategy to address those diseases was directed towards the discovery of a selective vasopressin 1a (V1a) antagonist for ASD, a splicing modifier of the survival of motor neuron 2 (SMN2) for SMA, and finally a g-secretase modulator (GSM) for AD. In the frame of our GSM project, we also reported the discovery of a bridge piperidine moiety as a bioisostere for a phenyl moiety with an improved drug-like profile.




How to Cite

H. Ratni, Chimia 2021, 75, 614, DOI: 10.2533/chimia.2021.614.