Nicholas E. Johnson, MD, Associate Professor in the Department of Neurology at Virginia Commonwealth University, summarizes data from the phase 1/2 MARINA trial. This trial tested AOC 1001 in patients with myotonic dystrophy type 1 (DM1).

 

DM1 is a progressive neuromuscular disease caused by a triplet repeat in the DMPK gene. The repetition leads to toxic levels of gain-of-function mRNA. Currently, there are no approved treatments for DM1. Symptoms and severity are highly variable among patients. However, all forms of DM1 are associated with high levels of disease burden and may lead to premature mortality. 

Data from the phase 1/2 MARINA trial testing of AOC 1001 in patients with DM1 was recently presented at the 75th American Academy of Neurology (AAN) Annual Meeting. Evidence showed the drug to be safe and effective. As noted by Dr. Johnson, the MARINA trial is a randomized, double-blind, placebo-controlled, Phase 1/2 clinical trial that enrolled 38 adults with DM1. AOC 1001 is a monoclonal antibody that binds to the transferrin receptor 1 (TfR1) conjugated with a siRNA targeting DMPK mRNA, the toxic gain of function mRNA that underlines the pathophysiology of DM1.

Data presented at AAN 2023 showed that AOC 1001 achieved directional improvements in multiple functional endpoint assessments. This includes myotonia, meaningful DMPK reduction, splicing improvements, and a favorable safety and tolerability profile. Results from the study are encouraging and a phase 3 clinical trial is currently being developed. 

To stay up-to-date on the latest information about DM1 and other genetic conditions, go to checkrare.com/diseases/congenital-and-genetic-conditions/