New treatments for spinal muscular atrophy

Abstract

5‑q-associated spinal muscular atrophy (SMA) has so far been a causally untreatable disease, which leads to severe, progressive physical restrictions due to the loss of spinal motor neurons. However, the monogenetic cause of the relatively short coding "survival motor neuron" (SMN) 1gene sequence and the presence of almost identical gene copies, the SMN2 genes, offer favorable conditions for the development of new therapeutic approaches. While previously only supportive and palliative therapies could be used, new disease-modifying drugs are now available for the first time. Nusinersen, an antisense oligonucleotide (ASO), is the first drug that has received approval in Germany to treat SMA. Further therapeutic approaches such as the so-called "small molecules" or the gene replacement therapy are currently still being tested in clinical studies or are already waiting for approval by the European Medicines Agency (EMA). In this article, the most important disease-modifying drugs of SMA, the associated studies and their challenges are presented.