DM1, a genetic disease with unmet medical needs
DM1 is caused by an abnormal expansion of a trinucleotide repeat in a non-coding region of the DMPK gene. After transcription, mutated DMPK mRNA folds into a hairpin that sequesters MBNL1 proteins, causing a lack of function of these proteins.
In the DM1 mouse model, HSALR, ATX-01 increased MBNL protein levels, reduced abnormal splicing events and improved the clinical phenotype.