Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

Neuromuscular Disorders - Tập 32 - Trang 460-467 - 2022
Anna G Mayhew1, Dionne Moat1, Michael P. McDermott2,3, Michelle Eagle1,4, Robert C. Griggs2, Wendy M. King5, Meredith K. James1, Robert Muni-Lofra1, Alison Shillington6, Sarah Gregson6, Lindsey Pallant7, Christy Skura8, Loretta A. Staudt8, Katy Eichinger2, Heather McMurchie9, Rosanna Rabb9, Marina Di Marco10, Sarah Brown10, Riccardo Zanin11, Maria Teresa Arnoldi11
1John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, International Centre for Life, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, United Kingdom
2Department of Neurology, University of Rochester Medical Center, Rochester, NY, United States
3Department of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, NY, United States
4ATOM International Limited, Gateshead, United Kingdom
5Department of Neurology, Neuromuscular Disease Center, The Ohio State University, OH, United States
6Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom
7Leeds General Infirmary, Leeds Children's Hospital, United Kingdom
8Neurology Department, David Geffen School of Medicine at UCLA, Los Angeles, California, United States
9Heartlands Hospital, University Hospitals Birmingham, Birmingham, United Kingdom
10Royal Hospital for Children, Glasgow, United Kingdom;
11IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

Tài liệu tham khảo

Mendell, 2012, Evidence-based path to newborn screening for Duchenne muscular dystrophy, Ann Neurol, 71, 304, 10.1002/ana.23528 Birnkrant, 2018, Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan, Lancet Neurol, 17, 445, 10.1016/S1474-4422(18)30026-7 van Ruiten, 2014, Improving recognition of Duchenne muscular dystrophy: a retrospective case note review, Arch Dis Child, 99, 1074, 10.1136/archdischild-2014-306366 Ciafaloni, 2009, Delayed diagnosis in Duchenne muscular dystrophy: data from the muscular dystrophy surveillance, tracking, and research network (MD STARnet), J Pediatr, 10.1016/j.jpeds.2009.02.007 Soim, 2018, Is there a delay in diagnosis of Duchenne muscular dystrophy among preterm-born males?, J Child Neurol, 10.1177/0883073818773029 Ricotti, 2016, The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials, J Neurol Neurosurg Psychiatry Magri, 2011, Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up, J Neurol, 258, 1610, 10.1007/s00415-011-5979-z Davidson, 2012, Deletions in the dystrophin gene predict loss of ambulation before 10 years of age in boys with Duchenne muscular dystrophy, Neuromuscul Disord, 22, 835, 10.1016/j.nmd.2012.06.111 Birnkrant, 2018, Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management, Lancet Neurol, 17, 211, 10.1016/S1474-4422(18)30024-3 Birnkrant, 2018, Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management, Lancet Neurol, 17, 347, 10.1016/S1474-4422(18)30025-5 McDonald, 2018, Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study, Lancet, 10.1016/S0140-6736(17)32160-8 Bushby, 2004, Report on the 124th ENMC international workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2-4 April 2004, Naarden, The Netherlands, Neuromuscul Disord, 14, 526, 10.1016/j.nmd.2004.05.006 Muntoni, 2019, Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy, PLoS ONE, 10.1371/journal.pone.0221097 Ricotti, 2016, The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials, J Neurol Neurosurg Psychiatry, 87, 149 Mercuri, 2012, International workshop on assessment of upper limb function in Duchenne Muscular Dystrophy. Rome, 15-16 February 2012, Neuromuscul Disord, 22, 1025, 10.1016/j.nmd.2012.06.006 Bushby K., Kirschner J., Luo X., Elfring G., Kroger H., Riebling P., et al. Results of North Star Ambulatory Assessments (NSAA) in the phase 3 ataluren confirmatory trial in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) (I15.008). 2016. McDonald, 2017, Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial, Lancet, 10.1016/S0140-6736(17)31611-2 Mayhew, 2011, Moving towards meaningful measurement: rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy, Med Child Scott, 2012, Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy, Physiother Res Int, 17, 101, 10.1002/pri.520 Hobart, 2009, Improving the evaluation of therapeutic interventions in multiple sclerosis: the role of new psychometric methods, Heal Technol Assess, 13, 1 Goemans, 2013, Six-minute walk test: reference values and prediction equation in healthy boys aged 5 to12 years, PLoS ONE, 8, e84120, 10.1371/journal.pone.0084120 Guglieri, 2017, Developing standardized corticosteroid treatment for Duchenne muscular dystrophy, Contemp Clin Trials, 58, 34, 10.1016/j.cct.2017.04.008 Griggs, 1990, The use of pulmonary function testing as a quantitative measurement for therapeutic trials, Muscle Nerve, 13, 10.1002/mus.880131310 McDonald, 2010, The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy, Muscle Nerve, 41, 500, 10.1002/mus.21544 Crapo, 2002, ATS statement: guidelines for the six-minute walk test, Am J Respir Crit Care Med Schiava, 2022, Clinical and genetic characteristics in young, glucocorticoid-naive boys with Duchenne muscular dystrophy, Neurology, 98, e390, 10.1212/WNL.0000000000013122 Mazzone, 2009, Reliability of the North Star Ambulatory Assessment in a multicentric setting, Neuromuscul Disord, 19, 458, 10.1016/j.nmd.2009.06.368 McDonald, 2013, The 6-minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study, Muscle Nerve, 48, 357, 10.1002/mus.23905 Pane, 2014, Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes, PLoS ONE, 9, 10.1371/journal.pone.0108205 Mazzone, 2010, North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy, Neuromuscul Disord, 20, 712, 10.1016/j.nmd.2010.06.014