A look back on a conference to shape LAMA2 clinical care guidelines

We are delighted to reflect on the success of the ENMC conference, initiated by Voor Sara and Cure CMD. Together, our mission is to enhance care for all patients by making vital information accessible to doctors worldwide, as well as to patients and their families.

Thanks to the dedication and expertise of renowned medical professionals, we engaged in deep and meaningful discussions that have set the stage for developing recommendations for expert care in the rare muscle disease Lama2-MD. While crafting such extensive guidelines is a monumental task that cannot be completed in a single weekend, we are committed to continuing this work collaboratively over the coming months.

Creating a ‘Living Document’

Our goal is to create a dynamic, ‘living document’—a comprehensive resource compiling all available information on Lama2-MD. This repository will integrate data from scientific research, natural history studies, and the knowledge and experience of field experts. During the conference, we identified critical questions to address and outlined a list of topics requiring further exploration. This initiative may even inspire new research projects.

Key areas of focus include:

• Respiratory challenges
• Managing spinal deformities and contractures
• Best practices for surgery and anesthesia
• Therapeutic options and assistive devices

Additionally, we learned that hypoglycemia (sudden drops in blood sugar) may be more common in patients than previously thought. Early sleep studies were also emphasized as essential. Practical advice from patients highlighted the importance of activities like swimming and singing to benefit young patients.

Patient Stories: A Valuable Perspective

An inspiring highlight was a talk by Justin Moy, who shared his personal experience of living with Lama2-MD, offering practical insights. Three Dutch patients also contributed moving video accounts of their journeys, addressing challenges such as mouth and facial weakness, enlarged tongues, and the social and communicative implications of these symptoms. Their candid stories underscored the human impact of this condition and the urgent need for improved care.

Moving Forward Together

Throughout the conference, participants engaged in lively discussions about optimizing treatment approaches and identifying areas for improvement in patient care. Over the next year, we will work diligently to develop clear and actionable care recommendations. While this initial conference marks only the beginning, we have made significant strides toward our shared goal of improving care for Lama2-MD patients worldwide.

Together, we are determined to create a brighter future. Let’s keep going!