Art Levin, PhD, distinguished scientist and strategic leader and member of the company’s board of directors at Avidity Biosciences, at Avidity Biosciences, gives an overview of myotonic dystrophy type 1 (DM1).
As explained by Dr. Levin, myotonic dystrophy type 1 is a form of muscular dystrophy characterized by myotonia, or the inability of muscles to relax, as well as muscle weakness. Other common symptoms can include respiratory problems, fatigue, hypersomnia, cardiac abnormalities, severe gastrointestinal complications, and cognitive and behavioral impairment. DM1 is caused by a triplet-repeat mutation in the DMPK gene, resulting in a toxic gain of functional mRNA. As it is passed down through generations, the disorder generally becomes more severe. Currently, there are no approved treatments for DM1.
The phase 1/2 MARINA trial is currently investigating AOC 1001 in patients with myotonic dystrophy type 1 (DM1). Recent positive data demonstrate the drug’s safety and tolerability and provide early signs of efficacy.
To learn more about DM1 and other rare musculoskeletal diseases, visit checkrare.com/diseases/musculoskeletal