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New therapeutic target for the treatment of myotonic dystrophy
WO 2022175478
Myotonic dystrophy (MD) is characterised by neuromuscular symptoms including muscle weakness (myopathy), muscle stiffness and problems relaxing muscles (myotonia), and progressive muscle wasting (atrophy). There are two main types of myotonic dystrophy: type 1 (DM1) and type 2 (DM2). Their signs and symptoms are similar, although type 2 is usually milder than type 1. DM1 is a genetic disease caused by an expansion of the CTG triplet in the 3' untranslated region of the DM1 protein kinase gene (DMPK). DM1 is autosomal dominant and can affect newborns to the elderly. DM1 is considered a multisystem disorder that primarily affects skeletal and smooth muscle, the nervous system and the heart. DM1 is classified as a rare disease, with an estimated population prevalence of 1 in 2100. Today, treatment aimed at palliating symptoms is the only way to preserve the quality of life of individuals living with DM. Therefore, drugs are needed that can reprogramme the disease cells into healthy cells.
The main advantages provided by the invention are: The identification of the target allows the selection of different drugs. The newly identified target is in the early stages of the pathogenesis pathway. Its reversion to the non-pathogenic state makes it possible that many characteristic phenotypes of the disease can be reversed or even prevented. The main application of the technology is in the pharmaceutical sector, as an active ingredient for the treatment of Myotonic Dystrophy.