Jeffrey 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 the 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.

Dr. Tawil is a 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.

Dr. 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 Ph.D. 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.

Dr. 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.

Perry Shieh, M.D., Ph.D., is Associate Professor of Neurology at the David Geffen School of Medicine at UCLA. He received his M.D. and his Ph.D. 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.

Dr. 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 landmass.

Leo H. Wang, M.D. Ph.D. 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.

Dr. 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.

John W. Day is Professor of Neurology and Pediatrics and Director of the Division of Neuromuscular Medicine at Stanford University. Dr. Day received his M.D. from the University of Minnesota, and Ph.D. 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 the transfer of the Stanford Neuromuscular data into the MOVE FSHD CTRN.

Dr. Stacy Dixon is a Neuromuscular Neurologist at University of Colorado
Anschutz Medical Campus

Dr. 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 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.

Jaya Trivedi, 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.

Sabrina 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 a 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.

Dr. 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.

Dr. Mul works as a neurologiSt. with expertise in neuromuscular disease at the Radboud University Medical Center, Nijmegen, the Netherlands. In addition to her clinical work, she is actively involved in facioscapulohumeral muscular dystrophy (FSHD) research and initiated 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 supervises various clinical studies on FSHD at her center. 

Dr. Bassez is an associate professor Neurology and Histology at Sorbonne University. He joined the Paris Institute of Myology at Pitié-Salpêtrière Hospital leading to the newly formed REDs (Repeat Expansion Diseases) research team. The lab's aim is to synergize efforts to speed up translational research for theses complex disease, including FSHD, myotonic dystrophy and OPMD, in order to provide therapeutic options for patients. Dr.Bassez research group is dedicated to translational research, precision medicine, and therapeutic trials prepardness. His research topic encompasses three main axes:

Dr. Hussain is the Director of the National Neuromuscular Research Institute and the Austin Neuromuscular Center, where he leads clinical and research efforts in neuromuscular diseases. His research focuses on peripheral and autonomic neuropathies, amyloidosis, and inflammatory myopathies. He has been involved in numerous clinical trials and investigator-initiated studies that aim to advance the treatment of neuromuscular disorders. His commitment to patient care and academic medicine is reflected in my role as an Assistant Professor of Neurology at Dell Medical School, University of Texas at Austin, where he mentors residents and medical students in clinical neurology and research.

• Study Coordinators: Hina Patel, Andrea Perales, Emil Hussain
• Clinical Evaluator: Emil Hussain

Dr. Lindsay N Alfano is a researcher specializing in the care and evaluation of patients with neuromuscular disorders, is a principal investigator in the Center for Biobehavioral Health and an assistant professor of Pediatrics at The Ohio State University. Dr. Alfano serves an integral role in planning and designing clinical trials and contributes to protocol development, outcome measure selection, statistical analysis, and interpretation for ongoing clinical trials within the Jerry R. Mendell Center for Gene Therapy and throughout the wider research community. Dr. Alfano serves on an international consortium of neuromuscular physical therapy experts that provide industry-standard training and reliability for multisite international trials. Her research goals focus on characterizing the natural history of rare and ultra rare diseases, achieving clinical trial readiness, as well as developing and promoting optimal assessment tools to measure change in movement abilities while minimizing the burden of study participation.

• Study Coordinator: Audrey Beale
• Clinical Evaluator: Megan Iammarino

James is a Neurology Consultant and Honorary Senior Lecturer at the Manchester Centre for Clinical Neuroscience. He is principally interested in the evaluation of patients with complex neuromuscular syndromes, working as co-chair of the Muscle Disease Unit, working in a joint neurology-rheumatology myositis clinic, and running the SMA assessment and treatment service for Greater Manchester.

• Study Coordinators: TBD
• Clinical Evaluators: TBD

Dr. Korngut is a neuromuscular neurologiSt. at the Calgary Neuromuscular Program where he diagnoses and treats neuromuscular conditions and performs electromyographic (EMG) studies, he served as Director of the program from 2017 through 2021. He is a Professor at the University of Calgary Cumming School of Medicine in the Department of Clinical Neurosciences, and a full member of the Hotchkiss Brain Institute. His research program focuses on collecting real world health data to improve health outcomes of patients with neuromuscular disease (ie. ALS). He has published over 62 peer-review articles and is a regular speaker at international conferences. 

• Study Coordinators: Janet Petrillo, Carissa Wong, Adeel Wasti
• Clinical Evaluators: TBD

Dr. Sophelia HS Chan is a Clinical Associate Professor at The University of Hong Kong and a Paediatric NeurologiSt. and Consultant at the Hong Kong Children’s Hospital, Queen Mary Hospital and Duchess of Kent Children’s Hospital. She completed her fellowship training at the Dubowitz Neuromuscular Centre in Great Ormond Street Hospital. Specializing in rare hereditary neurological diseases in children, she leads the Hong Kong (HK) Neuromuscular Disorder Diagnostic and Treatment program. She established the HK FSHD patient registry and initiated a genetic diagnostic study for FSHD type 1 locally. Dr. Chan is the principal investigator for several international clinical trials for SMA and DMD, and the academic lead of the SMA Treatment and Newborn Screening Programs in HK. Beyond her clinical and academic work, she also sits on the Asian Oceanian Myology Centre executive board and is a member of the World Muscle Society's Inclusion, Equity, and Diversity Committee.

• Study Coordinators: TBD
• Clinical Evaluators: TBD

Dr. Cristiane Araujo Martins Moreno, M.D., Ph.D., is a board-certified neurologiSt. with specialized training in neuromuscular diseases. She completed her neuromuscular training and Ph.D. at the University of São Paulo, where she focused on the genetic aspects of congenital myopathies. And further advanced her expertise with a postdoctoral fellowship at Columbia University in New York, specializing in genetic research on Motor Neuron Diseases and utilizing bioinformatics to discover new gene-disease associations.

Dr. Moreno currently serves as a Professor in the Neurology Department at the University of São Paulo and as a Neurology Consultant at the University of São Paulo's Clinical Hospital in Brazil. Dr. Moreno leads specialized clinics dedicated to neuromuscular diseases, with a focus on Genetic Myopathies and Mitochondrial Disorders.

As a researcher, she is the principal investigator of natural history and clinical studies on Facioscapulohumeral Dystrophy (FSHD), Congenital Myopathies, and Mitochondrial Myopathies. Dr. Moreno is particularly passionate about advancing clinical trial readiness in Brazil and ensuring excellence in the management and care of neuromuscular patients.

• Study Coordinators: Eliene Dutra Campos
• Clinical Evaluators: Mariana Artillheiro, Tatiana Ribeiro, Ana Paula Lanca

Dr. Matthews is a Consultant NeurologiSt. specialising in Neuromuscular disorders at St. George's University Hospitals NHS Foundation TruSt. and Reader in Neurology at St. George’s University of London. The Atkinson-Morley Neuromuscular Centre received a Neuromuscular Centre of Excellence Award in both clinical and research activity by Muscular Dystrophy UK in 2024. Dr. Matthews is a member of the UK FSHD Registry Steering committee, and a member of FSHD UK. She is the Rare Disease Lead for the SE Genomic Medicine Service Alliance and was appointed as the Genomics CAG Director at St. George's in October 2023. She is PI on a range of clinical trials (phase 1, 2 and 3 interventional and natural history) in genetic neuromuscular diseases including FSHD.

Dr. Matthews studied Medicine at the University of Aberdeen. She was awarded a Ph.D. in Neuroscience from the Institute of Neurology, University College London before undertaking higher specialiSt. training in neurology at the Royal Free Hospital and the National Hospital for Neurology and Neurosurgery (NHNN) in London.

From 2014-2020 Dr. Matthews worked as an academic consultant neurologiSt. at the Institute of Neurology, UCL funded by fellowships from the NIHR and Wellcome. She joined SGUL in 2021 funded by a Clinical Academic Research Partnership from MRC and NIHR. Her main academic interests are in genetic neuromuscular disorders. She has authored 5 book chapters and >100 peer reviewed papers in journals including the Lancet, Lancet Child and Adolescent Health, JAMA and Brain.

• Study Coordinators: TBD
• Clinical Evaluators: TBD

Dr. Mathews is a Professor of Pediatrics and Neurology, and Vice Chair for Clinical Investigation in the Department of Pediatrics. She directs the pediatric neuromuscular program and co-directs the U of Iowa Muscular Dystrophy Association clinic. She began her research career in basic science and contributed to the genetic mapping of facioscapulohumeral dystrophy (FSHD). She subsequently transitioned to clinical research and is funded by the NIH and CDC, in addition to serving as site PI for many industry-sponsored clinical trials and foundation-supported studies. She sees both pediatric and adult patients with a wide range of neuromuscular diseases in the clinic.

• Study Coordinators: TBD
• Clinical Evaluators: TBD

Dr. Ian Woodcock is a paediatric neurologist at the Royal Children’s Hospital in Melbourne and Honorary Fellow at the Murdoch Children’s Research Institute. He completed his FRACP fellowship training in 2018 and submitted his Ph.D. thesis at the University of Melbourne in late 2023.

Dr. Woodcock has been involved in more than 20 industry sponsored clinical trials since 2017, including three current gene therapy clinical trials. He was principal investigator in an investigator-led trial of creatine monohydrate in children with facioscapulohumeral muscular dystrophy (FSHD), the first randomised clinical trial in this population. Dr. Woodcock has authored multiple peer reviewed publications, including being a co-author and team member in the pivotal New Eng J. Med. publication of the ENDEAR study, which led to the first FDA-approved disease modifying treatment for patients with SMA. He has instigated translational change to prepare the Melbourne Children’s Campus to be an approved gene therapy centre, now actively involved in trials and treatment. He has been successful in multiple competitive grants, mainly for on-going research projects in paediatric FSHD. He works closely with patient advisory groups and is regularly an invited member of industry advisory boards.

• Study Coordinators: TBD
• Clinical Evaluators: Katy de Valle

Dr. Channa Hewamadduma is a consultant neuromuscular neurologist who cares for adult neuromuscular patients and those at transition age with both inherited and acquired neuromuscular (NM) disorders. He is the lead neuromuscular clinician at Sheffield teaching hospitals NHS foundation group of hospitals which is one of the largest in the UK and is recognised as a centre of excellence in clinical care and research in neuromuscular disorders as appraised by Muscular dystrophy UK. He co-chairs the North, Yorkshire and Humber regional neuromuscular network which covers the North of England. Dr. Hewamadduma holds advisory roles in the clinical expert capacity to NHS England and NICE.

His research interests span several neuromuscular disorders, and he is national chief investigator in several phase I-III clinical trials in SMA, FSHD, DM1, Myasthenia gravis, inflammatory neuropathies, genetic spastic ataxias and painful neuropathies. Dr. Hewamadduma has research programmes in development and assessment of outcome measures for natural history studies and in clinical trials sphere, neuroimaging in neurodegeneration and induced neuron (iNeuron) cellular modelling to investigate novel bio markers and compound screening. Dr. Hewamadduma is NCI/PI in the UK for MOVE/MOVE+ natural history studies in FSHD and a member of MDCRN/FSHDCTRN and DM1.

Study Coordinators: Jon Street

Clinical Evaluators: Jon Street, Lindsay Maidment