Today Is International Myotonic Dystrophy Awareness Day!
The colour green has been chosen to represent International Myotonic Dystrophy Awareness Day which takes place on 15 September and many buildings throughout the world will be lit up green on the day! As MDI’s News Update focused on Myotonic dystrophy last January, we are happy to provide an update on research developments since then
Myotonic dystrophy research news
AOC 1001
Avidity Biosciences, Inc. is investigating the safety, tolerability, efficacy, pharmacokinetics (how the drug is absorbed, distributed, metabolised, and excreted in the body) and pharmacodynamics (how the drug affects the body and its therapeutic effect) of AOC 1001 in people with DM1.
In October 2023 the company presented early results from their Phase1/2 clinical trial called ‘MARINA and MARINA open-label extension trial. The data demonstrated improvements in functional measures including hand grip (myotonia), muscle strength and mobility.
Since then, long-term data from this trial has shown reversal of condition progression in individuals with myotonic dystrophy type 1. This phase 2 trial included 37 participants. Results showed consistent improvements in myotonia (hand opening time), multiple measures of strength, including hand grip, elbow, knee, and ankle extension and flexion and improvements in activities of daily living, identified in a patient-reported outcome measure.
Avidity Biosciences hope to build on this data using a larger sample size in a phase 3 HARBOR trial which is due to begin this year.
Juvena Therapeutics JUV-161
Juvena Therapeutics is a biotech company that focuses on regenerative medicine. This field involves replacing or repairing human or animal cells, tissues, or organs to help them work normally again.
Juvena uses a special platform called JuvNet, which combines a library of stem-cell-secreted proteins and artificial intelligence to sift through proteins that are produced by the body’s stem cells. Stem cells can turn into any type of cell in the body, like liver or skin cells. The aim is to identify proteins that promote healing and tissue growth, with the ultimate goal of creating new drugs to prevent and treat diseases like myotonic dystrophy.
One of their products, JUV-161, contains a lab-made protein called insulin-like growth factor 2 (IGF-2). This protein is injected under the skin and helps control important processes in cells, like growth and survival.
The US Food and Drug Administration (FDA) has given orphan drug designation to JUV-161. Orphan drug status is designed to encourage the development of therapies for rare conditions. Human clinical trials of JUV-161 are expected to begin later this year.
Webinars
If you are interested in learning more about drug developments for myotonic dystrophy, the Myotonic Dystrophy Foundation has a ‘Meet the DM Drug Developers’ series! You can register to attend upcoming webinars or listen to recordings of previous webinars. Details in the link below https://www.myotonic.org/meet-dm-drug-developers
Journal article
Not only genetics! Twins offer insights into DM1 cognitive deficit contributors
This case study presents a fascinating example of how identical twins, despite sharing the same genetic makeup, can have different levels of cognitive functioning, emotional processing, and size and volume of different brain regions. The study focused on differences in emotional processing and social cognition between the twins, who, despite having the same genetic diagnosis, were exposed to different environmental conditions.
You can read an article about this study here.