Department of Neurology
Klinikum der Universität München (KUM) is the maximal level hospital of the Ludwig-Maximilians-University (LMU) München. KUM/LMU is currently involved in 19 EU-FP-7 projects. KUM has a particular focus on rare diseases, as it participates in 10 and coordinates 2 of 16 BMBF-funded German networks on rare diseases.
The Friedrich-Baur-Institute (FBI) is part of the Department of Neurology and has a primary focus on neuromuscular disorders. With its 70 staff members (15 physicians), FBI provides medical care for 4.000 out-patients and 1800 in-patients per year and processes about 600 muscle biopsies per year, and is the leading neuromuscular centre in Germany. Within the institute all types of analyses for neuromuscular disorders are performed. In addition, a multidisciplinary clinical study centre is integrated. Major MD-Net and TREAT-NMD registries for e.g. Duchenne muscular dystrophy, spinal muscular atrophy, and myotonic dystrophy are run by the FBI.
The Friedrich-Baur-Institute, is part of the consortium by co-coordinating WP3. Our main tasks will be i: to determine the best way to examine the various deficits, hereby focusing on the ability of the measures to fulfil modern psychometric requirements; ii: to obtain consensus on standardized outcome measures (OMs) for therapeutic DM1 trials; iii: to comply with the interventional purposes of the current study, the primary outcome will be assessed by the DM1 population-based Rasch-built disability scale (DM1-Activ). Secondary OMs are selected for comparison purposes and will include: pre-evaluated muscle strength measures, biochemical measures, cognitive measures, a Rasch-built DM1-specific fatigue-sleepiness scale; six minutes walking test, and quality of life measures; iv: to subject the selected ordinal based multi-items scales to Rasch analyses.
Our special interest and task within this consortium will be the evaluation of exercise training and cognitive behavioural training. Exercise training is a valuable training technique for counter measurement for any type of induced muscle atrophy. Physical and cognitive training is widely used as one of the prevention strategies of muscle and cognitive aging.
Professor Benedikt Schoser serves a principal investigator at the LMU and is co-initiator of this proposal. As trained neurologist and myopathologist, he has a long-standing interest in myotonic dystrophies and published 27 papers on several aspects of myotonic dystrophy. He has experience in all aspects of neuromuscular diseases, and is running at the FBI an out- and in-patient clinic with focus on neuromuscular disorders. He is member of the German reference centre for neuromuscular disease and co-head of the diagnostic working group of the German muscular dystrophy network (MD-Net) and Myotonic dystrophy ENMC group. He chaired the International Myotonic Dystrophy Consortium Conference in 2009 (IDMC-7).
The DM registry (Germany)
This registry is operated by the Friedrich-Baur-Institut, Klinikum der Universität München (University of Munich hospital).
Head of the DM registry (international and Germany)
Prof. Dr. med. Benedikt Schoser
Benedikt Schoser is Associate Professor of Neurology at the Ludwig-Maximilians-University of Munich. He is working at the Friedrich-Baur-Institute, the neuromuscular department of the LMU, in leading position. His main research interests are neuromuscular diseases, primarily myotonic, and muscular dystrophies, and inflammatory myopathies and clinical trials in neuromuscular patients. He chaired the 7th International myotonic dystrophy conference (IDMC-7) in 2009. He is head of the diagnostic section of the German Muscular Dystrophy Network (MD-NET), funded by the Federal Ministry of Education and Research (BMBF), and member of TREAT-NMD. He is speaker of the Southern Bavarian Muscles Society and member of the Scientific Advisory Board of the Muscular Dystrophy Association of Germany (DGM), and ad hoc reviewer for several peer-reviewed journals.
Medical contact person
Dr. Angela Schüller
Angela Schüller is currently working as resident MD at the Friedrich-Baur-Institute, the Neuromuscular Department of the Ludwig-Maximilians-Universtity of Munich, where she specializes in the field of neurology and neuromuscular diseases. Her research interest focuses on inherited neuromuscular disorders and clinical trials in order to improve diagnosis, health care and therapeutic options in patients with neuromuscular diseases. Within the European Network TREAT-NMD and the German Network MD-NET she is concerned with the patient registry for Myotonic Dystrophies.
Profile Dr. Angela Schüller
Simone Thiele is a member of the European Network TREAT-NMD as well as the German Network MD-NET and Curator of the DM registry. Besides, she is involved with the patient registries for FKRPopathies, Duchenne Muscular Dystrophy and Spinal Muscular Atrophy which are organised by the Friedrich-Baur-Institute in Munich. Her other focus lies on the coordination of clinical trials.
Registry homepage: www.dm-registry.org
German DM Patient interest group
at the Deutsche Gesellschaft für Muskelkranke e.V.
For detail patient infomation about the diseases (in German) please visit: dgm.org