We are thrilled to share details from a fruitful ENMC conference to kick off a project to publish CMD subtype-specific care guidelines. This effort was initiated in partnership between Cure CMD and Voor Sara, with additional funding support from the Muscular Dystrophy Association.
Thanks to the efforts of some of the world's greatest CMD experts, much was discussed at the meeting hosted January 17-19, 2025 in The Netherlands. Attendees laid the groundwork to begin composing expert care recommendations for the five primary subtypes of CMD, beginning with LAMA2-RD. This meeting was only the beginning of a long road ahead.
Our ultimate goal for subtype-specific care recommendations is to develop a living document, where all relevant and available information can be found, gathered from scientific publications, natural history studies and the knowledge and experience of clinicians who treat those living with CMD. A list of questions was compiled, as well as all of the care topics we need to gather more information about, and which may lead to new research projects in the near future.
Key areas of concern expressed by the affected community through a survey conducted in November and December 2024 include management of respiratory symptoms, joint contractures and spine curvatures, how to effectively prepare for a surgery or procedure and how anesthetics play a critical role in recovery. The community was also interested in learning more about potentially impactful therapies and devices that could improve quality of life.
Through meeting discussions, it became clear that more affected individuals than previously thought experience episodes of hypoglycemia, and that a sleep study cannot be initiated early enough.
Practical tips from those living with LAMA2-RD were also informative, including the importance of swimming and singing to maintain lung function. Justin Moy, who lives with LAMA2-RD, shared his insights, and three Dutch affected individuals also spoke candidly about their experiences around facial weakness, having an enlarged tongue, and how these symptoms impact speech and social engagement for those living with LAMA2-RD.
Bram Verbrugge, President of Voor Sara, shared his experiences as the father of an affected young girl, showing several videos of his daughter. He also relayed some of the many questions asked by community members, making it clear that we still have a long way to go in terms of adequately supporting this community's care needs. There was a great deal of discussion among clinicians around current treatment methods, and on which areas of care we need to prioritize our focus.
To the clinicians who volunteered their time at this meeting, and many more who will give more of their time and expertise in the coming months, we are so grateful for your commitment to publishing actionable, subtype-specific care recommendations for LAMA2, Collagen 6, LMNA, SELENON, and the Dystroglycanopathies. This project will never be truly complete as our understanding of these disorders continue to evolve, and as those living with these conditions continue to share their insights and priorities for improving their lives. We look forward to supporting this work as a top priority in 2025, and as more progress is made, we'll share additional updates.
Special thanks to Bram Verbrugge for providing original content for this post and his ongoing dedication to the LAMA2 Community. Special thanks also to Cure CMD's Scientific Director, Dr. Gustavo Dziewczapolski, for participating in the meeting and representing the Cure CMD Community.