Global FKRP Registry Steering Committee
About the Steering Committee
The Global FKRP Registry Steering Committee is composed of seven consultant doctors and physiotherapists experienced in paediatric and adult care, a patient representative and one representative each from LGMD2I Research Fund and CureLGMD2i. The Steering Committee is chaired by Prof Volker Straub.
The Steering Committee is responsible for reviewing all requests for data from the Global FKRP Registry. This is intended to be a streamlined and rapid procedure in order not to delay approval.
Steering Committee Members
Lindsay Alfano is a physical therapist with expertise in the care and evaluation of patients with neuromuscular disease including outcome measure development and evaluation. She has an integral role in planning and designing clinical trials in the Center for Gene Therapy at Nationwide Children's Hospital contributing to protocol development, outcome measure selection, analysis, and interpretation for ongoing clinical trials. Lindsay’s research goals focus on developing and promoting optimal assessment tools to measure change in movement abilities while minimizing the burden of testing and has developed several novel tools to achieve this goal. In addition, she aims to elevate the standard of care for individuals with neuromuscular disorders through research and development of educational and training programs for professionals in the field. She serves on an international consortium of physical therapists providing expert consultation, standardized training, and quality control for multi-site clinical trials.
Kelly Brazzo is the Co-Founder and CEO of the CureLGMD2i Foundation. In 2011, Kelly’s daughter, Samantha, was diagnosed with LGMD2I (R9) at the age of two. Kelly and her husband, Keith, realized that there was limited research and no existing treatment for this condition. In an effort to provide a positive future for Sammy and the entire LGMD2I community, they established CureLGMD2i, a 501c3 nonprofit organization, to increase awareness and raise funding to support research for this rare and progressive disease. The Brazzo family resides in Lancaster, PA, USA.
Nicholas E. Johnson, MD, MSCI, FAAN is an associate professor of Neurology and Human and Molecular Genetics and vice chair of research in Neurology at Virginia Commonwealth University with a focus in inherited neuromuscular disorders. He received his undergraduate degree in molecular and cellular biology and psychology at the University of Arizona. He then obtained his medical degree at the University of Arizona. He completed his neurology residency and combined fellowship in neuromuscular medicine and experimental therapeutics at the University of Rochester.
His laboratory is focused on identifying the pathogenesis of limb girdle muscular dystrophy, myotonic dystrophy, and facioscapulohumeral muscular dystrophy and identifying appropriate clinical endpoints for these conditions. Johnson conducts therapeutic trials in many other inherited nerve and muscle disorders.
Jean-Pierre Laurent has been the program officer of the LGMD2i Research Fund since 2015. Prior to this, Jean-Pierre led research programs in molecular genetics in the field of infectious diseases for 10 years before becoming a venture partner in an early-stage life science venture capital firm focused on translational and clinical stage investments, in particular in HIV and cancer. He has more than 20 years of experience in evaluation, financing and management of drug development programs.
Katherine Dianne Mathews is Professor of Paediatrics and Neurology at the University of Iowa. She is Vice Chair of Clinical Research for the Department of Pediatrics. Her research activities are focused on clinical aspects of muscular dystrophies, with the goal of improving outcomes. She has directed a natural history study in the dystroglycanopathies as part of the University of Iowa Wellstone Muscular Dystrophy Specialized Research Center for >15 years. She is on the MDA Medical Advisory Committee and the FSH Society’s Scientific Advisory Board. Dr. Mathews runs an active clinical service and has been director of the MDA clinic for >20 years.
Dr Kristin Ørstavik
Kristin Ørstavik, MD PhD, is a Senior Consultant in Neurology and Clinical Neurophysiology. She is head of Section for Rare Neuromuscular disorders and EMAN at the Department of Neurology, Oslo University Hospital, Norway. This is a multi-disciplinary section working on diagnostics, treatment and ensuring adequate long term follow-up for people with hereditary neuromuscular disorders. The section is part of the National Consortium for Neuromuscular Disorders in Norway. Her research-interests are specifically related to Myotonic Dystrophy and rare polyneuropathies, pain and physical activity. However, she is also involved in research on other rare neuromuscular disorders including LGMDR9. She is Head of the National Interest Group for Neuromuscular Disorders. Oslo University Hospital newly became a member of Euro-NMD, with her Section as the main applicant and together with the National Consortium on NMD.
Volker Straub is the Deputy Dean, Harold Macmillan Professor of Medicine and Professor of Neuromuscular Genetics at the Institute of Translational and Clinical Research at Newcastle University, United Kingdom. He is the Director of the university’s John Walton Muscular Dystrophy Research Centre and holds honorary clinical appointments with the Newcastle upon Tyne Hospitals NHS Foundation Trust and the North Tees and Hartlepool NHS Foundation Trust.
Volker was trained as a paediatric neurologist at the University of Düsseldorf and the University of Essen in Germany. He wrote his PhD thesis on Duchenne muscular dystrophy (DMD) and worked as a postdoctoral research fellow in Dr Kevin Campbell’s laboratory at the Howard Hughes Medical Institute at the University of Iowa in Iowa City, Iowa, USA, on limb girdle muscular dystrophies (LGMD).
Volker has a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. His current research also involves the application of magnetic resonance imaging, next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders.
One of Volker’s main interests in muscle diseases is around translational research. He was the co-founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD (www.treat-nmd.org), which he coordinated together with Kate Bushby. Volker is a long standing core member of the TREAT-NMD TACT committee (www.treat-nmd.org/what-we-do/tact-treat-nmd-advisory-committee-for-therapeutics/), which offers guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases.
Volker is the CI/ PI for a number of natural history and interventional trials in DMD, LGMD, Pompe disease, spinal muscular atrophy and other NMDs. Volker also partners with the Broad Institute and MIT to lead the MYO-SEQ study, a pan European next generation sequencing programme targeted at patients with limb girdle weakness of unknown origin (https://myo-seq.org). Volker recently chaired the European MYO-MRI COST Action (BM1304) to develop applications of MR imaging and spectroscopy techniques in neuromuscular disease. He is part of the steering committee of the MRC Centre for neuromuscular diseases and is now President of the World Muscle Society. He is an author on >300 peer-reviewed publications.
John Vissing is Professor of Neurology at the University of Copenhagen, Denmark. John has been director of the Neuromuscular clinic and research unit since 2000. His main research interest is in exercise and the effect of training in muscle conditions such as Becker Muscular dystrophy and Limb Girdle Muscular dystrophy 2I. His other main interest is metabolic muscle disease such as McArdle disease and mitochondrial myopathies.
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, in leading position. Furthermore, she graduated with a master degree in management of social and health institutions.
Her main research interest are neuromuscular diseases, mainly muscular dystrophies, myofibrillar myopathies, inflammatory myopathies 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, and member of TREAT-NMD, an European Network of Excellence in the 6th EU frame program for translational research in neuromuscular diseases. 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.
Lacey Woods resides in Stanwood, Washington (USA) with her husband and two of her four daughters. In 2007 she received the LGMD2I diagnosis, which prompted her to gather information on the disease. Finding accessible knowledge in layman's terms proved to be challenging. This impelled her to create the LGMD2I website (www.lgmd2i.com) with the objective to educate and assist others with the disease. Since then, she has also started the LGMD2I Facebook group, which she moderates. The website and Facebook group have given others on a similar journey a place to get answers, build friendships, and find support. In the near future she would like to see a clearer understanding of the FKRP mutations, bring to light all the symptoms of LGMD2I, and have an across the globe protocol on how to treat those affected.