Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Year: 2018
Type: article
Study design: Observational Study
Abstract: BACKGROUND AND OBJECTIVE: gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests. METHODS: We present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed. RESULTS: being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment. CONCLUSIONS: The information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials. CLINICAL TRIAL REGISTRATION: NCT01676077.
Authors: Jordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, Meredith K James, Anna Mayhew, Fiona E Smith, Ursula R Moore, Andrew M Blamire, Pierre G Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva M Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T Fricke, Hansel Otero, Sheryl L Foster, Anthony Peduto, Anne Marie Sawyer, Heather Hilsden, Hanns Lochmuller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber-Katz, Maggie C Walter, Carmen Paradas, Jean-Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori-Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R Mendell, Kate Bushby, Volker Straub
Institutions: Hospital de Sant Pau, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Biogipuzkoa Health Research Institute, Donostiako Unibertsitate Ospitalea, Universitat Autònoma de Barcelona, Newcastle University, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Institut de Myologie, Pitié-Salpêtrière Hospital, Jain Foundation, Children's National, George Washington University, Nationwide Children's Hospital, University of Padua, National Center of Neurology and Psychiatry, National Center Hospital of Neurology and Psychiatry, Carolinas Healthcare System, Carolinas Medical Center, Hospital Universitario de Valme, Ludwig-Maximilians-Universität München, Washington University in St. Louis, Aix-Marseille Université, Centre de Résonance Magnétique Biologique et Médicale, The University of Sydney, Westmead Hospital, Stanford Medicine, Stanford University, Max Delbrück Center, Charité - Universitätsmedizin Berlin, Children's Hospital at Westmead, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Hôpital de la Timone, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Assistance Publique – Hôpitaux de Paris
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Funders: Jain Foundation, Medical Research Council
Award: G78058795
OpenAlex ID: W2799357371