Muscle and Synapse Disorders

Additionally, development of tools to measure the effect of a treatment in a clinical setting is essential.   

This subtheme aims to conduct innovative research on clinical profiling, clinical and radiological biomarkers, pathophysiology and development of new treatments. This is supported by detailed and innovative national and international patient registries, and participation in investigator-initiated as well as industry sponsored clinical trials.

Duchenne, Becker and Limb-Girdle muscular dystrophy

LUMC is the national expertise center for Duchenne and Becker muscular dystrophy (DMD/BMD) as well as limb-girdle muscular dystrophy (LGMD), which are genetic disorders hallmarked by muscle wasting. Our research focus is on understanding pathophysiology and the natural history, the development of clinical outcome parameters, circulating biomarkers and muscle MRI. LUMC is also the national referral center for clinical trials and advanced therapies in these conditions.

Our current projects

The National Patient Registry for DMD and BMD:  LUMC governs the Dutch Dystrophyinopathy Database (DDD), a hybrid registry that is able to capture both clinician and patient reported data and identify candidates for clinical studies.

The National Biobank: LUMC coordinates the Dutch biobank for DMD and BMD. Annual clinical visits combined with blood and urine sampling in the Dutch University Medical Centers provides ongoing collection of natural history data and facilitates the identification of biomarkers

The National LGMD Patient Registry: to study epidemiology and natural history and identify participants for clinical trials.

Individualized Trajectories  of the Upper Arm in DMD: A natural history study in preparation of local intramuscular treatment in advanced stages of the disease.

Corticosteroid Treatment in DMD: This study describes the long-term risk-benefit balance of different steroid regimes in DMD and investigates patients preferences.

Window of Opportunity for Interventions in NMD: A natural history study including muscle MRI and biomarkers with the aim to predict clinically meaningful change.

Duchenne Protein Mapping Project: A collaboration with the ImagingDMD group from the University of Florida to identify circulating and imaging biomarkers that are related to loss of function in patients with DMD.

Brain Involvement in Dystrophinopathies (BIND): an international multicenter study characterize the cognitive phenotype of DMD and BMD.

Clinical trials: LUMC is lead center in the Netherlands for clinical trials in DMD and BMD. Our dedicated team of research nurses, clinical evaluators and clinicians is able to conduct interventional studies in children and adults.

Myasthenia gravis

Myasthenia gravis (MG) is an auto-immune disease characterized by fluctuating muscle weakness.

Our team has a long history of internationally recognized myasthenia gravis research. We are co-authors of numerous international guidelines and the leading authors of the national guideline.

In the past years, our group has been involved in several translational research projects funded by the Prinses Beatrix Spierfonds, ZonMw, Spieren voor Spieren, European Union, NIH, amongst others. We have been involved in clinical trials for MG on thymectomy (NIH funded), clinical trials testing new drugs for MG (ArgenX, Alexion, Roche pharm),  and an n=1 trial on ephedrine (ZonMw funded).

Clinical Principal Investigators

• Prof. J.J.G.M. Verschuuren, MD, PhD
  Head of the Department
• Professor of Neurology
  Consultant Neurologist, neuromuscular specialist
  Focus: Myasthenic syndromes
• E.H. Niks, MD, PhD
  Consultant Neurologist and Pediatric Neurologist, neuromuscular specialist
  Focus: Duchenne and Becker Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Pediatric myasthenic syndromes
• U.A. Badrising, MD, PhD
  Consultant Neurologist, neuromuscular specialist
  Focus: inclusion body myositis, facioscapulohumeral dystrophy
• M.R. Tannemaat, MD, PhD
  Section head of Clinical Neurophysiology
  Consultant Neurologist and Clinical Neurophysiologist
  Focus: Myasthenic syndromes
• C.S.M. Straathof, MD, PhD
  Consultant in  Neurology, neuromuscular specialist
  Focus: Duchenne and Becker Muscular Dystrophy

Non-clinical Principal Investigators

• J. Plomp, MSc, PhD
  Neurobiologist
  Focus: Myasthenic syndromes, Duchenne Muscular Dystrophy
• M. Huijbers, PhD
  Senior researcher
  Focus: Myasthenic syndromes

Study Personnel

• Y. Krom-Meijer, MSc, PhD
  Coordinator Duchenne Center Netherlands and the LUMC Expertise Center for Pediatric Neuromuscular Diseases
• M. van Heur-Neuman
  Study nurse/coordinator
• A.G.H. Peters
  Study nurse/coordinator
• L.T.M. de Wit
  Study nurse/coordinator
• M. van der Holst, PhD
  Pediatric physiotherapist
• J. Bongers, BSc
  Database manager