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FSHD CTRN map of sites

The University of Kansas Medical Center (KUMC) - Dr. Jeffrey Statland

J. StatlandJeffrey M. Statland, M.D. is a Professor of Neurology at the University of Kansas Medical Center in Kansas City, Kansas. His research background has centered primarily on describing the natural history of and response to therapy for neuromuscular diseases. He completed a neuromuscular fellowship in Experimental Therapeutics of Neurological Diseases at the University of Rochester Medical Center, and currently serves as principal investigator or co-investigator for research studies in Facioscapulohumeral Muscular Dystrophy (FSHD), Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Myotonic Dystrophy. His specific research interest over the last 6 years has been preparing for clinical trials in FSHD. He has systematically analyzed performance of strength and functional outcomes in prior FSHD clinical trials and compared to performance in a natural history study. He has worked with collaborators to develop new disease-relevant outcome measures to assess patient-reported disease burden, functional impairment, and physiological changes in muscle. He has obtained pilot data on the use of a number of novel outcomes for FSHD, including electrical impedance myography, a disease specific functional rating scale, and a wireless motion analysis system in FSHD.

 

University of Rochester Medical Center (URMC) - Dr. Rabi Tawil

Rabi TawilDr. Tawil is Professor of Neurology at the University of Rochester Medical Center. He is a clinician-researcher with long standing involvement in FSHD research. His FSHD research has included an extensive natural history study, studies correlating the genetic defect and the clinical severity, and the first controlled therapeutic trials in this condition. He has organized and chaired several international FSHD meetings and has served on the FSH Society scientific advisory board for ten years. He directs The National Registry FSHD Patients and Family Members, based at the University of Rochester, instituted to link patients with investigators to facilitate research into these diseases. Dr. Tawil has spearheaded workshops to establish standards of care in FSHD as well as to establish the necessary tools for FSHD clinical trials. With the crucial help of the FSHD patient community, Dr. Tawil has established the largest FSHD bio-repository in the world. This repository of well-characterized biological samples was essential in facilitating the recent molecular discoveries by the laboratories of Drs. Silvere van der Maarel, in Leiden, the Netherlands and Dr. Stephen Tapscott at the Fred Hutchinson Cancer Research Institute in Seattle. In the last several years Dr. Tawil has worked closely with Dr. Statland to enhance trial readiness in FSHD and formed the FSHD Clinical Trial Network. Drs. Statland and Tawil are co-Investigators in the current U01 study.

Kennedy Krieger Institute (KKI) - Dr. Doris Leung

Doris LeungDr. Doris Leung is the director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute and an assistant professor in the Department of Neurology at The Johns Hopkins University School of Medicine. Dr. Leung obtained her undergraduate degree from Harvard University, graduating magna cum laude in biochemical sciences. She obtained her medical degree from the Duke University School of Medicine and her PhD in Clinical Investigation from the Johns Hopkins Bloomberg School of Public Health. Dr. Leung's research focuses on the identification and development of imaging biomarkers and outcome measures for muscle diseases. She is the principal investigator for a longitudinal cohort study of whole-body MRI in facioscapulohumeral muscular dystrophy. She also serves as Associate Clerkship Director for Neurology at the Johns Hopkins School of Medicine.

The Ohio State University (OSU) -  Dr. Bakri Elsheik

Bakri Elsheik portraitDr. Bakri Elsheikh is Professor of Neurology and Director of EMG laboratory and the Clinical Neurophysiology and Neuromuscular Medicine Fellowships at The Ohio State University College of Medicine (OSUCOM). He also serves as the Director of the MDA Clinical Care Center at Ohio State. He serves as the principal investigator and co-investigator on many studies including FSHD and other neuromuscular diseases. He works closely with the Nationwide Children's Hospital to create an optimal education environment and successfully recruit and expand these programs.

University of California Los Angeles (UCLA) - Dr. Perry Shieh

Perry ShiehPerry Shieh, MD, PhD, is Associate Professor of Neurology at the David Geffen School of Medicine at UCLA. He received his MD and his PhD in Neuroscience from Johns Hopkins University in Baltimore, Maryland. He completed residency training in neurology at Stanford University Hospital and fellowship training in clinical neurophysiology/EMG at Brigham and Women’s Hospital. Dr. Shieh’s principal clinical interests include Facioscapulohumeral muscular dystrophy (FSHD), Duchene muscular dystrophy (DMD), myotonic dystrophy, spinal muscular atrophy, inflammatory myopathy, myasthenia gravis, electromyography, and muscle histopathology. And he has served as an investigator in many clinical trials for neuromuscular conditions.

University of Utah (UOU) - Dr. Russell Butterfield 

russ butterfieldDr. Russel Butterfield is co-director of the MDA clinic at the University of Utah, which has been in continuous existence for 30 years and sees patients across the intermountain west (Utah, Idaho, Nevada, Wyoming), an area accounting for 10% of the US land mass.

University of Washington (UW) - Dr. Leo Wang

Leo WangLeo H. Wang, MD PhD is an Associate Professor in neurology at University of Washington. He is an NIH-funded researcher as a co-investigator in Project 2 Muscular dystrophy clinical trials foundation of the Seattle Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, Seattle. The project has led to successful grant applications with the Friends of FSH Research Foundation, and allowed the University of Washington to be in the eight-site U01 Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD through the NINDS. He received funding from the Friends of FSH Research to start a phase I clinical trial utilizing tacrolimus and prednisone to determine whether a change occurs in the MRI biomarker for the disease.

Virginia Commonwealth University (VCU) - Dr. Nicholas Johnson  

Nick JohnsonDr. Nicholas Johnson is an Associate Professor of Neurology and Vice Chair of Research in Neurology, and runs the MDA clinic which cares for adults and children, as well as a separate ALS clinic. Dr. Johnson's. research focus is in the development and conduct of therapeutic trials in genetic nerve and muscle disorders, in particular the development of disease specific patient reported outcomes including the FSHD Health Inventory.

Centre Hospitalier Universitaire (Nice, France) - Dr. Sabrina Sacconi

S sacconiSabrina Sacconi is Professor of Neurology at Nice University Hospital (France) and is head of the Peripheral Nervous System and Muscle department and of the Reference Centre for Neuromuscular Diseases. She is also coordinating a basic research team at IRCAN Institute of Research on Cancer and Aging and working on implementing several databases and biobanks on rare neuromuscular diseases. The main research topic of Prof. Sacconi is facioscapulohumeral muscular dystrophy (FSHD). She has participated with her clinical expertise to many collaborative projects that have contributed in elucidating FSHD physiopathology, and in determining the epigenetic and genetic causes of FSHD2.

At the national level, Prof. Sacconi is the coordinator of the French FSHD registry that has been launched in 2013 and has enabled to collect until now data on more than 700 FSHD patients in view of gaining better understanding of several aspects of the disease and particularly variability of clinical severity and progression. Moreover, she is coordinating different multicentric studies. Basic research projects are focused on better understanding the role of SMCHD1 gene in both FSHD1 and FSHD2, as well as in studying the impact of aging in the development and progression of FSHD and other neuromuscular diseases.

University of Milan, Italy - Dr. Valeria Sansone

V SansoneDr. Sansone has had experience in neuromuscular disorders both from a clinical and basic science point of view since the first years of Medical School, initially working in basic research regarding ion channel modulation in vitro using the patch-clamp technique. For the past 22 years she has been in charge of in-patients with muscle disorders at the University Department of Neurology in Milan and she has also been in charge of the State-run out-patient neuromuscular clinic at the Hospital Site. Her main field of research have been the myotonic disorders, especially the Myotonic Dystrophies (DM). Dr Sansone is author of several relevant manuscripts dealing with disease progression, natural history and quality of life. Since 2013, she is the Clinical Director of a neuromuscular dedicated multidisciplinary clinic for in- and out-patients with neuromuscular disorders including kids and adults. There are over 100 patients with FSHD being taken care of at the Nemo Center in Milan. She is Faculty at the University of Milan since 2006 and the NEMO Center has become a University Teaching Hospital since 2013.

Radboud University Medical Center, Nijmegen, The Netherlands - Dr. Karlien Mul

Karlien MulDr.  Mul works as an MD at the Neurology department of the Radboud University Medical Center, Nijmegen, the Netherlands. Since 2013 she is actively involved in FSHD research and coordinated a large observational cohort study including over 200 FSHD patients. Her main research interests are phenotype-genotype relations, muscle imaging biomarkers and the development of clinical outcome measures. She authored various FSHD papers over the last few years and successfully defended her PhD thesis on FSHD at the end of 2018.

University of Florida,  - Dr. S. H. Subramony

SH SubramonyDr. S. H. Subramony was trained in Neurology and Electromyography/ Neuromuscular diseases at the Cleveland Clinic, Cleveland, OH. Subsequent to that, he was on the faculty at the University of Mississippi Medical Center from (from 1980 to 2007), where he was named the Billy Guyton Distinguished Professor of Neurology. Later, at University of Texas Medical Branch in Galveston where he was appointed the Charlotte Warmoth Professor of Neurology (2007 to 2009 ), before coming to University of Florida in 2009. He has directed the adult Muscular Dystrophy clinics and the Ataxia Clinic at UF since then.

Over the last 25 years, he has had an investigative interest in genetically determined neuromuscular disorders and hereditary ataxias. He was an active participant in many gene identification studies in these

disorders and more recently has been focused on translational research to bring innovative therapies to these disorders. He has active collaborations with the Powell Gene Therapy center and the Center for Neurogenetics at UF allowing for bench to bedside translation. He is an active member of national study groups in Friedreich Ataxia, myotonic muscular dystrophy, facio-scapulohumeral dystrophy and spinocerebellar ataxias and site investigator for federally funded clinical research studies in many of these disorders. In addition, he is the site investigator for many industry funded clinical trials in these diseases. Dr. Subramony is considered one of the world leading experts in these fields.

The University of Texas Southwestern Medical Center - Jaya Trivedi, M.D.

Jay TriverdiJaya Triverdi, M.D. is a Professor in the Department of Neurology & Neurotherapeutics at UT Southwestern Medical Center, Dallas, Texas. She specializes in treating neuromuscular disorders and has been involved in various multi-center clinical trials for several years as a site investigator and as a co-investigator. These trials involve disorders such as Non-dystrophic Myotonia (NDM), Periodic Paralysis, Amyotrophic Lateral Sclerosis, Chronic Inflammatory Demyelinating Polyneuropathy, Myasthenia Gravis, Muscular Dystrophy, and Inflammatory Myopathies. Additionally, Dr. Trivedi serves as a co-PI of the Wellstone Training Core grant to recruit, train, and maintain the next generation of transformative investigators focused on addressing the challenges of muscular dystrophy.

Stanford University School of Medicine - John W. Day, M.D., Ph.D.

John DayJohn W. Day is Professor of Neurology and Pediatrics, and Director of the Division of Neuromuscular Medicine at Stanford University. Dr. Day received his MD from the University of Minnesota, and PhD in neuroscience from Albert Einstein College of Medicine, where he studied synaptic physiology and plasticity. After completing his neurology and neuromuscular training at UCSF he was recruited to the University of Minnesota, where, as Professor of Neurology, Pediatrics and Genetics, he founded and directed the Paul and Sheila Wellstone Muscular Dystrophy Center. In 2011 he was recruited to Stanford to establish a comprehensive Division of Neuromuscular Medicine, which provides multi-disciplinary care and extensive clinical research opportunities for pediatric and adult neuromuscular patients and also maintains a database of detailed patient clinical information and a repository of biopsy, autopsy and other patient-derived specimens for collaborations with translational and basic science investigators.

The Stanford neuromuscular program cares for more than 50 patients with FSHD, which we expect to increase as we participate in the MOVE FSHD CTRN. Dr. Day has more than 20 years of experience in FSHD diagnosis and care as well as in neuromuscular clinical research. The Stanford Neuromuscular Clinical Research Team includes 11 dedicated research coordinators and two academic neuromuscular physical therapists and clinical research evaluators. The Stanford pediatric and adult hospital electronic medical record systems are integrated with a neuromuscular REDCap database that facilitates data entry into registries and clinical trials and will be used to coordinate transfer of the Stanford Neuromuscular data into the MOVE FSHD CTRN.

University of Colorado - Matthew P. Wicklund, M.D.

Matthew WicklundMatthew P. Wicklund, MD is professor of neurology at the University of Colorado School of Medicine in Aurora, Colorado. His research interests include muscle disorders, primarily the epidemiology, natural history and therapeutics associated with genetic muscle diseases. He completed his neuromuscular medicine fellowship at The Ohio State University, and has served as principle investigator for research studies in Facioscapulohumeral Muscular Dystrophy, Duchenne and Becker Muscular Dystrophies, the Limb Girdle Muscular Dystrophies (LGMDs) and Inclusion Body Myositis. His specific research interest over the past two decades has emphasized delineation of the incidence, prevalence, phenotypic diversity and genetic heterogeneity of the LGMDs. He has worked with collaborators to delineate the relative prevalence of the LGMDs in the United States as well as to expand understanding of the similarities and contrasts amongst this group of genetic muscle diseases.

Last modified: May 25, 2021
Events

FSHD Family Day
November 7, 2020
9 a.m. to 2 p.m., CST

Clinical Trials
Contact Us

Kiley Higgs
Project Manager
913-945-9922
ksims2@kumc.edu

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