Maggie Walter is Associate Professor of Neurology at the Ludwig-Maximilians-University of Munich. She has trained as a neurologist at the LMU Munich, and is working at the Friedrich-Baur-Institute, the neuromuscular department of the LMU. Furthermore, she graduated with a master degree in management of social and health institutions.
Her main research interests are neuromuscular diseases, mainly muscular dystrophies, myofibrillar myopathies, inflammatory myopathies, spinal muscular atrophy, CMT neuropathies, and clinical trials in neuromuscular patients. She is coordinator of the German Muscular Dystrophy Network (MD-NET), funded by the Federal Ministry of Education and Research (BMBF) since 2003, co-coordinator of the German Charcot-Marie-Tooth Neuropathy Network (CMT-NET), funded by the Federal Ministry of Education and Research (BMBF) since 2016, and member of the TREAT-NMD Alliance. Since 1997, she is member of the Scientific Advisory Board of the Muscular Dystrophy Association of Germany (DGM), and ad hoc reviewer for several peer-reviewed journals.
This poster was presented as part of the EURO-NMD 1st Annual Meeting - Freiburg, Germany in November, 2017.
Contact Maggie Walter about this poster at maggie.walter@lrz.uni-muenchen.de.
Simone Thiele, cand. med. (Friedrich-Baur Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Germany)
Sabine Krause, PhD, MD (Friedrich-Baur Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Germany)
Peter Reilich, MD, MA (Friedrich-Baur Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Germany)
Prof Thomas Klopstock, MD (Friedrich-Baur Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Germany)
Title
Improving diagnosis, treatment and care for all patients with neuromuscular diseases, and accelerating trial readiness through harmonized rare disease patient registries.
Abstract
Early and accurate diagnosis can improve patients’ quality of life and life expectancy. The Friedrich-Baur-Institute is the largest neuromuscular centre in Germany with about 1500 in-patients and 4000 out-patients per year (solely with neuromuscular diseases), providing integrated clinical services for including clinical assessment, electrophysiology, muscle and nerve pathology, immunohistochemistry and immunoblotting, muscle biochemistry, muscle and nerve ultrasound, whole-body muscle MRI, genetic services, physiotherapy, rehabilitation therapy, counselling and social services. The Friedrich-Baur-Institute is involved in two European Reference Networks – ERN-NMD and ERN-RND.
Within and beyond TREAT-NMD, we have established patient registries for Duchenne muscular dystrophy, Spinal Muscular Atrophy, FKRPopathies, Myotonic Dystrophies, Mitochondriopathies, Charcot-Marie-Tooth neuropathies, and Inclusion body myositis (www.treat-nmd.de). New therapeutic strategies for neuromuscular diseases like DMD, such as exon-skipping or stop-codon read-through, target specific genetic defects, and clinical trials are ongoing. When a clinical trial is being planned, it is very important that patients suitable for that trial can be found and contacted quickly to facilitate enrolment in the trial. The best way of ensuring this is to collect relevant data about patients in a single registry containing the information that researchers will need, including each patient’s particular genetic defect and other key information about their disease. It is therefore of high importance to harmonize trial infrastructures, standards of care, outcome measures, and patient registries internationally, to give patients access not only to information or clincial trials, but to upcoming treatments for these devastating diseases. We are contributing to the German CTSR (Care and Trial Site Registry) to allow overcoming one of the major problems in clinical trials: the identification of trial sites capable of recruiting enough patients and offering a specific standard of care and experience.
