I am a neurologist at Radboud university medical center, where I lead clinical and translational research on myotonic dystrophy type 1 (DM1) — a hereditary muscle disease that can affect multiple organs. My goal is to improve care for people with DM1 and support the development of new treatments.

In recent years, the first clinical trials for targeted therapies in DM1 have started — an exciting and long-awaited development. These therapies aim to tackle the disease at its root cause. While this marks a major step forward, there is still a lot of work to do. Together with my team, I focus on three main areas:

1. Understanding the disease and its variability

We aim to better understand how DM1 develops and why it affects people so differently. This includes studying both the clinical symptoms and the biological mechanisms behind them — from toxic RNA and splicing defects to factors that might influence how the disease progresses. By identifying the key drivers of variability and possible points for intervention, we hope to discover targets for future therapies and improve how we guide care on an individual level.

2. Developing tools to measure treatment effects

To test whether new treatments work, we need reliable and sensitive ways to measure change — tools that not only meet regulatory standards, but also reflect what truly matters to patients in daily life. We develop and validate outcome measures such as questionnaires, muscle ultrasound, tests of strength and function. These tools are designed to capture meaningful improvements in function, symptoms, and quality of life, both in clinical trials and in regular care. Our work is embedded in large natural history studies, in which we follow people with DM1 over several years. These long-term data help us understand how the disease evolves, and which measures are best suited to detect meaningful changes over time.

3. Preparing for new therapies

At our center, several clinical trials for DM1 therapies are currently ongoing. While these studies are a promising first step, the real challenge will begin once a treatment proves to be effective. In the future, I aim to play a leading role in helping to implement these therapies in clinical practice. This includes setting up systems to identify eligible patients, monitor long-term effects, and optimize treatment strategies over time. I see it as my responsibility to ensure that new therapies can be introduced safely, fairly, and in a way that truly benefits patients.

I bring extensive experience in clinical research from my earlier work on facioscapulohumeral muscular dystrophy (FSHD). Over the past decade, I have led large natural history studies, developed imaging and patient-reported outcome measures, and helped prepare the field for therapeutic trials. These efforts have laid a strong foundation for my current focus on DM1, where I apply the same principles of patient-centered, data-driven innovation. My mission is to make sure that people with DM1 receive the best possible care, based on the latest knowledge.