The Copenhagen Neuromuscular Center (CNMC) has a staff of about 40 health care professionals dedicated to neuromuscular diseases. The center consists of a research unit with about 15 full-time researchers and a clinical trial unit that runs 20 trials with the pharma industry. Main areas of research involve muscle diseases, myasthenia gravis and neuropathies. Approximately 50 peer-reviewed scientific publications are published yearly from the clinic.
Main research areas
- Metabolic & mitochondrial myopathies: we investigate pathophysiology/disease mechanisms in McArdle and Pompe diseases using mouse models, exercise physiological tests and muscle MR studies. Mitochondrial dysfunction is investigated as the underlying cause of reduced insulin sensitivity. Dietary treatment is investigated in McArdle disease, gene therapy in Pompe disease and several drug treatments in mitochondrial myopathies.
- Inflammatory and hereditary neuropathies: Several treatment trials run for chronic inflammatory demyelinating neuropathies (CIDP), Charcot-Marie-Tooth type 1A (CMT1A) neuropathy and hereditary amyloid neuropathy. Studies on exercise rehabilitation in a broad group of neuropathies.
- Muscular dystrophies (MDs): The unit runs several natural history studies in five different MDs, and explores the effect of muscle fiber protecting agents and gene therapy in several MDs. Exercise treatment in severely affected MDs is explored.
- Myasthenia gravis (MG): Seven clinical drug trials are conducted in MG. Several in depth studies probe into the diagnostic challenges in MG, drug treatment side-effects, differences among MG patients who are sero-positve vs. -negative and who are pure ocular vs. generalized. Studies investigate the level of fatigue and physical activity in patients with MG.
- Muscle channelopathies: A natural history study in hypokalemic periodic paralysis is conducted to assess disease affection and progression. Molecular pathophysiology including dysfunctional autophagy is ongoing. MR-assessment of a variety of non-dystrophic myotonias is conducted to map disease involvement and muscle contractility. A clinical study compares the effect of lamotrigine vs. mexiletine in non-dystrophic myotonias.
- Discovery of new neuromuscular diseases: Our lab investigates potential new diseases discovered in our clinic by use of comprehensive molecular tools and creation of mice disease models.
- MR imaging of muscle: Quantitative muscle MR is used in several studies to describe muscle phenotype in a variety of neuromuscular diseases and to follow disease progression in follow-up and clinical drug treatment trials. MR is also used to investigate muscle contractility and by employing spectroscopy on a 7T scanner to investigate the importance of glycogen build-up for muscle degeneration in McArdle and Pompe diseases. Using artificial intelligence, a study is aimed at improving diagnostics of muscle diseases by MRI.
- Defining outcome measures for natural history and trials: Appropriate functional outcome measures are under study for myotonic dystrophy, MDs and MG. The reliability and responsiveness of different modes of assessment of axial muscle strength in MDs are studied. Quantitative MRI and biological biomarkers are explored as potential endpoints for several diseases.
- Clinical trials: Currently, 20 clinical trials in phase I, II and III are conducted at CNMC in the following diseases: Limb girdle muscular dystrophies types 2I, 2B, Becker muscular dystrophy, Pompe disease, myasthenia gravis, centronuclear myopathies (DNM2 and MTM1), CIDP, CMT1A, mitochondrial myopathies, facioscapulohumeral muscular dystrophy.
Read more about Copenhagen Neuromuscular Center at the website neuromoscular.dk (link, open in new tab)