GRASP-LGMD project he has assembled a team of neuromuscular specialists, basic scientists, physical therapists, geneticists, informaticians, and patient advocates to address issues related to: diagnostics; outcome measure development, patient engagement; and therapeutic development.
Principal Investigator. Nicholas Johnson, MD, MS-CI, is an Associate Professor of Neurology and Vice Chair of Research for the Department of Neurology at Virginia Commonwealth University. He has formal training in neuromuscular diseases and Experimental Therapeutics at the University of Rochester Medical Center. He has experience team-building and creating consortiums for a variety of neuromuscular diseases: 1) he is the PI of the Muscular Dystrophy Association funded LGMD research network; 2) he is the PI for the Myotonic Dystrophy Clinical Research Network, made up of 9 sites across the United States; 3) he is the PI for the congenital myotonic dystrophy research network, comprised of 3 sites across the United States, Canada, and Europe; 4) he is a member of the facioscapulohumeral muscular dystrophy clinical trial research network, comprised of 8 sites across the United States, and 2 collaborating sites in Europe; 5) and in his role as faculty at the University of Utah he was the hosting site, meeting facilitator, and on the planning committee for the Muscle Study Group, an organization of over 200 neuromuscular physicians in the United States and Europe.
Clinical Site Liaison Jeffrey Statland, MD is an Associate Professor of Neurology at the University of Kansas Medical Center and Director of the MDA clinic. He completed a fellowship in Experimental Therapeutics at the University of Rochester. He has specific expertise in trial network design, as well as validating clinical outcome assessments. He along with his collaborator Rabi Tawil, MD formed the FSHD clinical trial research network, and run an NINDS sponsored clinical trial preparedness study for FSHD, including 8 sites in the US, and 2 sites in Europe. The model for the network included all stakeholders in the disease process and includes collaborations with patient advocacy, active patient engagement, and collaborations with industry. He has written extensively about the validation of clinical outcome assessments in facioscapulohumeral muscular dystrophy and the non-dystrophic myotonias. He is currently participating as a site PI or investigator in a number of research networks, including the FSHD clinical research network (which he leads), the myotonic dystrophy clinical research network, and the motor neuron disease RDCRC. For the current proposal, he brings these experiences to bear on the LGMDs.
Lead Clinical Evaluator. Lindsay Alfano, PT, DPT, PCS is a physical therapist at Nationwide Children’s Hospital at the Center for Gene Therapy. She has worked with others within the Center for Gene Therapy to develop new and more sensitive outcome measures for use in slowly progressive neuromuscular disorders, such as the LGMDs. She has extensive experience as a clinical evaluator, working on a number of different therapeutic trials in neuromuscular diseases. She has served as a lead clinical evaluator in many of these studies.
Genomics Lead Investigator. Monkol Lek, PhD, is an Assistant Professor in Genetics at Yale University. He completed his PhD training at the University of Sydney. He then performed a post-doctoral fellowship in Daniel MacArthur’s laboratory at the Broad Institute and Harvard Medical school. He was the lead author for the Exome Aggregation Consortium project and led the Broad Center for Mendelian Genomics analysis team, and has a key role in the ongoing MYOSEQ project. He is personally committed to the project, as he has a form of LGMD himself.
Biorepository Director. Conrad Weihl, MD, PhD, is an Associate Professor of Neurology at Washington University. He received his MD and PhD at the University of Chicago prior to completing his residency and fellowship in Neuromuscular Medicine at Washington University in St. Louis. He is a translational scientist, with a strong interest in the relationship between the genotype and phenotype in genetic neuromuscular disorders. He has expertise in cell models, animal models, and other forms of functional validation designed to better associate the genotype with the phenotype.
Patient Advocacy Group Liaison. Matt Wicklund, MD, is Professor of Neurology and Chief of the Neuromuscular Division at the University of Colorado. He has extensive experience in clinical research in the LGMDs. He has assisted in the development of clinical guidelines in LGMD.
Project Manager. Brittney Holmberg-Allen, CCRP is the Manager of Clinical Operations at Virginia Commonwealth University. She oversees the clinical research study conduct and serves as a CRA for all active studies.