ARTHEx Biotech Publishes Promising Preclinical Research for DM1

ARTHEx Biotech S.L., a clinical-stage biotechnology firm dedicated to creating innovative therapies by modulating gene expression, recently announced a significant publication in Science Advances. This study reveals the dual mechanism of two anti-miRs, which show great promise as a treatment for myotonic dystrophy type 1 (DM1). DM1, a condition caused by unstable CTG repeat expansions in the DMPK gene, leads to muscle defects due to a depletion of the Muscle-Blind Like Splicing regulator (MBNL1). ARTHEx Biotech’s research demonstrates that RNA therapeutics can address these underlying disease mechanisms effectively.

The research, led by Beatriz Llamusi, PhD, Chief Scientific Officer and Co-Founder of ARTHEx Biotech, emphasizes the potential of anti-miRs to offer novel therapeutic approaches for DM1. The published work evaluated the efficacy of two specific AntimiRs in primary myoblasts derived from DM1 patients. These AntimiRs target miR-23b and miR-218, natural repressors of MBNL1. The findings indicated a significant reduction in toxic DMPK mRNA, restoration of normal MBNL1 levels, and correction of critical cellular defects such as myoblast fusion, myotube formation, and splicing defects.

Remarkably, AntimiR-23b treatment not only reduced DMPK transcripts but also reversed 68% of dysregulated genes. This effect was observed across various forms of DM1, suggesting its broad potential regardless of the CTG repeat size. The dual mechanism of AntimiR-23b addresses MBNL1 depletion, caused both by DMPK accumulation and sequestration and by reduced production, marking a significant therapeutic advance.

The manuscript, titled "AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action," is accessible online and provides comprehensive insights into the study.

Myotonic dystrophy type 1 (DM1) is a severe, disabling condition affecting over one million individuals globally. The disease impacts muscles and other tissues, leading to symptoms such as respiratory problems, fatigue, hypersomnia, cardiac anomalies, severe gastrointestinal issues, and cognitive and behavioral challenges. While DM1 typically manifests in adulthood, it can also appear at birth in a congenital form or during childhood. Unfortunately, the progression of DM1 significantly hampers patients' ability to perform daily activities and shortens their lifespan. Currently, no approved treatment exists to slow the disease's progression.

ARTHEx Biotech, headquartered in Valencia, Spain, is at the forefront of developing gene expression modulators for DM1 and other high unmet medical need disorders. The company's lead investigational compound, ATX-01, is undergoing evaluation for treating DM1 in the Phase I-IIa ArthemiR™ trial. ARTHEx Biotech continues to advance its in-house discovery engine to identify and develop novel therapies for genetically-driven diseases, contributing to the ongoing scientific efforts to combat these debilitating conditions.