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The World Health Organization highlights a critical need for treatments in rare diseases, with less than 6% currently having approved therapies. The EU-funded DREAMS project aims to discover therapies for five rare neuromuscular disorders with similar pathophysiological traits. To do so we will generate a collection of induced pluripotent stem cells from patients affected with Duchenne muscular dystrophy, Pompe disease, DNM2 centronuclear myopathy, Danon disease and Emery-Dreifuss muscular dystrophy. Following differentiation into skeletal muscle cells, these iPS cells will be used to discover common biomarkers across these disorders. A particular interest will be given to autophagic dysregulations that have previously been reported as a target of interest in those diseases. In DREAMS, we will also develop phenotypic and mechanism based screening approaches to test a library of 4000 drugs. Hits mechanism of action will be investigated using AI based target deconvolution algorithms and the best candidates will be evaluated in preclinical animal models of these diseases. Beyond the identification of repurposable drugs for these five diseases, DREAMS propose an innovative platform combining pluripotent stem cells, drug screening and AI usable to find treatments to other groups of diseases of genetic origin.
Nissan et al. (Wed,) studied this question.