Reflections on MDF 2025: From Insights to Action

The stories shared by participants, caregivers, and activists during the Myotonic Dystrophy Foundation (MDF) Annual Conference reminded me why it’s so vital to keep raising awareness about myotonic dystrophy, especially in places where the disease remains largely unknown.

Recently, I had the opportunity to attend the MDF Annual Conference in Indianapolis, Indiana. The event brought together experts, researchers, participants, and families to share progress, raise awareness, and strengthen efforts toward finding a solution for this complex disease.

Myotonic dystrophy (DM) is a chronic genetic disease that primarily affects the muscles but can also impact other organs such as the heart, lungs, and endocrine system. There are two main types: DM1 and DM2, with DM1 being the most common and severe. It is estimated to affect approximately 1 in every 8,000 people worldwide, although its prevalence varies across different populations. The disease progresses slowly, and symptoms can include muscle weakness, fatigue, heart problems, and respiratory difficulties, among others. Despite advances in research, a curative treatment is still distant, although some studies show promising progress.

Progress, Challenges, and Opportunities in DM Research

This was my fourth time attending the conference, and one thing that stood out was the increasing number of drug developers interested in DM. This demonstrates a positive shift in the field and more opportunities for finding effective treatments.

From my perspective, it’s exciting to see how research in DM1 has grown, with around 20 developers working through various stages of clinical trials. However, despite the advances in DM1, access to research and funding for DM2 remains a concern. DM2 participants face a scarcity of studies and resources, creating a significant gap in our search for solutions for everyone affected by this condition.

One of the biggest challenges continues to be the development of treatments that not only manage symptoms but also provide a more holistic approach, even potentially a cure for the disease.

Stiris at the forefront, bridging science and patient advocacy in DM

At Stiris, our work goes beyond clinical trials, we strive to be a bridge that amplifies the voices of the myotonic dystrophy community. Using our experience, capabilities and partnering with others who want to make a difference, we can help raise awareness and ensure that our studies are designed with a truly patient-centered approach. The key is listening, understanding, and adapting our approaches based on the real needs of those living with the disease.

It’s essential that we continue to drive the visibility of myotonic dystrophy through our networks and events and help ensure that participants receive the care and information they need. Early research and diagnosis are key to changing the lives of those living with this disease.

Driving real impact in myotonic dystrophy research

My commitment after this conference is to continue raising awareness about myotonic dystrophy, especially in environments where knowledge of the disease is limited.

The stories of participants, their families, and caregivers continue to deeply inspire me. One of the most impactful moments during the event was the presentation of the “Above and Beyond” award to an activist from Japan. Her story, which covered her struggle to ensure that participants with DM in Japan had access to information about new treatments, was profoundly moving.

That story of resilience and dedication reminded me of the purpose and importance of what we do in the field of clinical research, and why we must keep fighting for a future with better treatment options.