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
Craig M. McDonald,Erik K Henricson,R. Ted Abresch,Julaine Florence,Michelle Eagle,Eduard Gappmaier,Allan M. Glanzman,R. Spiegel,Jay A. Barth,Gary Elfring,A. Reha,Stuart W. Peltz +11 more
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TLDR
The 6MWD is an optimal primary endpoint for Duchenne muscular dystrophy clinical trials that are focused therapeutically on preservation of ambulation and slowing of disease progression.Abstract:
Introduction: An international clinical trial enrolled 174 ambulatory males ≥5 years old with nonsense mutation Duchenne muscular dystrophy (nmDMD). Pretreatment data provide insight into reliability, concurrent validity, and minimal clinically important differences (MCIDs) of the 6-minute walk test (6MWT) and other endpoints. Methods: Screening and baseline evaluations included the 6-minute walk distance (6MWD), timed function tests (TFTs), quantitative strength by myometry, the PedsQL, heart rate–determined energy expenditure index, and other exploratory endpoints. Results: The 6MWT proved feasible and reliable in a multicenter context. Concurrent validity with other endpoints was excellent. The MCID for 6MWD was 28.5 and 31.7 meters based on 2 statistical distribution methods. Conclusions: The ratio of MCID to baseline mean is lower for 6MWD than for other endpoints. The 6MWD is an optimal primary endpoint for Duchenne muscular dystrophy (DMD) clinical trials that are focused therapeutically on preservation of ambulation and slowing of disease progression. Muscle Nerve 48: 357–368, 2013read more
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Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies
TL;DR: Novel biomarker signatures of dystrophinopathies will be indispensible for the swift evaluation of innovative therapeutic approaches, such as exon skipping, codon-read-through or stem cell therapy.
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Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy.
Monica Llano-Diez,Carlos Ortez,Lidia Álvarez-Cabado,Cristina Jou,Julita Medina,Andrés Nascimento,Cecilia Jimenez-Mallebrera +6 more
TL;DR: It is demonstrated that digital PCR is a useful technique for accurate absolute quantification of microRNAs in sera of DMD/BMD patients and miR-30c is proposed as a potential novel biomarker to assess disease severity in DMD.
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Duchenne Muscular Dystrophy: Advances in Therapeutics
P. Garrood,Kate Bushby +1 more
TL;DR: Duchenne Muscular Dystrophy: Advances in Therapeutics is divided into four sections with individual chapters being written by one or more experts in that field, one of the major strengths of the book is its simple, logical layout.
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Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis.
Simone Schmidt,Simone Schmidt,Patricia Hafner,Andrea Klein,Andrea Klein,Andrea Klein,Daniela Rubino-Nacht,Vanya Gocheva,Jonas Schroeder,Arjith Naduvilekoot Devasia,Stephanie Zuesli,Guenther Bernert,Vincent Laugel,Clemens Bloetzer,Maja Steinlin,Andrea Capone,Monika Gloor,Patrick Tobler,Tanja Haas,Oliver Bieri,Thomas Zumbrunn,Dirk Fischer,Dirk Fischer,Ulrike Bonati,Ulrike Bonati +24 more
TL;DR: The motor function measure and timed function tests measure disease severity in a highly comparable fashion and all tests correlated with quantitative muscle MRI values quantifying fatty muscle degeneration.
Journal ArticleDOI
Quality of life in adults with muscular dystrophy.
Matthew F. Jacques,Rachel C. Stockley,Gladys Onambele-Pearson,Neil D. Reeves,Georgina K. Stebbings,Ellen A. Dawson,Lynne Groves,Christopher I. Morse +7 more
TL;DR: In this article, the authors compared the self-reported QoL of adults with Duchenne MD (DMD), Beckers MD (BMD), Limb-Girdle MD (LGMD), and Fascioscapulohumeral MD (FSHD), and a non-MD (CTRL) group.
References
More filters
Journal ArticleDOI
Clinical significance: a statistical approach to defining meaningful change in psychotherapy research.
Neil S. Jacobson,Paula Truax +1 more
TL;DR: In this paper, the authors defined clinically significant change as the extent to which therapy moves someone outside the range of the dysfunctional population or within the ranges of the functional population, and proposed a reliable change index (RC) to determine whether the magnitude of change for a given client is statistically reliable.
Journal ArticleDOI
Dystrophin: The protein product of the duchenne muscular dystrophy locus
TL;DR: The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus.
Journal ArticleDOI
Measurement of health status: Ascertaining the minimal clinically important difference
TL;DR: An approach to elucidating the significance of changes in score in quality of life instruments by comparing them to global ratings of change is developed, and a plausible range within which the minimal clinically important difference (MCID) falls is established.
Journal ArticleDOI
PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations.
TL;DR: The PedsQL distinguished between healthy children and pediatric patients with acute or chronic health conditions, was related to indicators of morbidity and illness burden, and displayed a factor-derived solution largely consistent with the a priori conceptually-derived scales.
Journal ArticleDOI
Bosentan therapy for pulmonary arterial hypertension.
Lewis J. Rubin,David B. Badesch,Robyn J. Barst,Nazzareno Galiè,Carol M. Black,Anne Keogh,Tomás Pulido,Adaani E. Frost,Sébastien Roux,Isabelle Leconte,Michael J. Landzberg,Gérald Simonneau +11 more
TL;DR: The endothelin-receptor antagonist bosentan is beneficial in patients with pulmonary arterial hypertension and is well tolerated at a dose of 125 mg twice daily.
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