LEARNING ABOUT LIVER IN MTM & CNM

Myotubular and Centronuclear Myopathy have historically been viewed as muscle diseases, with significant impact on skeletal muscle. However, there is also growing knowledge of liver-related issues, including rare bleeding episodes (peliosis hepatis) and problems with bile flow (hepatic cholestasis). It is very important to better understand these topics, which may affect the day-to-day care of individuals living with MTM/CNM and also have significant impact on research and development of potential treatments.

We recently teamed up with our friends at Myotubular Trust, and the Myotubular and Centronuclear Myopathy Patient Registry, to present a webinar outlining the current state of understanding and future directions. One thing is clear - there is not enough data available yet regarding liver function in MTM/CNM. This is where you can help - we are asking all families and individuals with MTM or CNM, living or deceased, to complete a new liver function questionnaire within the Registry.

A few key points:

• Even if you have few or no liver issues to report, your answers are valuable and will help guide future research
• Initial data analysis will start soon - results will be presented at the 28th International Annual Congress of the World Muscle Society in October 2023, so please complete the questionnaire as soon as possible
• Ongoing updates to your Registry data can be made in the future as additional circumstances develop, or if immediate participation is not possible
• The Registry will also share the results (when available) with you by email after you enroll and publish them on their website here: Registry Impact & Activity
• The MTM-CNM Collaborative Liver Working Group (read more here) greatly values your contributions and is continuing to work on advancing the topic of liver in MTM and CNM

Click the button below to get started at the Registry. Thank you!