THE 6‐minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

Abstract

Introduction : Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double‐blind, placebo‐controlled trial of ataluren. Placebo arm data ( N = 57) provided insight into the natural history of the 6‐minute walk test (6MWT) and other endpoints. Methods : Evaluations performed every 6 weeks included the 6‐minute walk distance (6MWD), timed function tests (TFTs), and quantitative strength using hand‐held myometry. Results: Baseline age (≥7 years), 6MWD, and selected TFT performance are strong predictors of decline in ambulation (Δ6MWD) and time to 10% worsening in 6MWD. A baseline 6MWD of <350 meters was associated with greater functional decline, and loss of ambulation was only seen in those with baseline 6MWD <325 meters. Only 1 of 42 (2.3%) subjects able to stand from supine lost ambulation. Conclusion : Findings confirm the clinical meaningfulness of the 6MWD as the most accepted primary clinical endpoint in ambulatory DMD trials. Muscle Nerve 48 : 343–356, 2013

Shown for reading. Its publisher allows quoting it, not republishing it.

References 41

1. 1.

   Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77-93.

   Not in our library10.1016/s1474-4422(09)70271-6

2. 2.

   Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9:177-189.

   Not in our library10.1016/s1474-4422(09)70272-8

3. 3.

   Crespo CJ, Keteyian SJ, Heath GW, Sempos CT. Leisure-time physical activity among US adults. Results from the Third National Health and Nutrition Examination Survey. Arch Intern Med. 1996;156:93-98.

   Not in our library

4. 4.

   McDonald CM, Henricson EK, Han JJ, Nicorici A, Abresch RT, Atkinson LA, et al. The 6-minute walk test (6MWT) as a clinical trial outcome measure in Duchenne/Becker muscular dystrophy (DMD/BMD). Neuromuscul Disord. 2008;18:739.

   Not in our library

5. 5.

   McDonald CM, Henricson EK, Han JJ, Abresch RT, Nicorici A, Elfring GL, et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve. 2010;41:500-510.

   Not in our library10.1002/mus.21544

6. 6.

   McDonald CM, Henricson EK, Han JJ, Abresch RT, Nicorici A, Atkinson L, et al. The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. Muscle Nerve. 2010;42:966-974.

   Not in our library10.1002/mus.21808

7. 7.

   Temple R. Are surrogate markers adequate to assess cardiovascular disease drugs? JAMA. 1999;282:790-795.

   Not in our library10.1001/jama.282.8.790

8. 8.

   Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, et al. North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2010;20:712-716.

   Not in our library10.1016/j.nmd.2010.06.014

9. 9.

   Mazzone EG, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, et al. Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology. 2011;77:250-256.

   Not in our library10.1212/wnl.0b013e318225ab2e

10. 10.

    Henricson E, Abresch R, Han JJ, Nicorici A, Goude Keller E, Elfring G, et al. Percent predicted 6-minute walk distance in duchenne muscular dystrophy to account for maturational influences. Version 2. PLoS Curr. 2012 Jan 25 [revised 2012 Feb 2];4:RRN1297.

    Not in our library10.1371/currents.rrn1297

11. 11.
    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 · 2013

    No notice
12. 12.

    This reference’s wording can’t be shown under the paper’s licence.

    Not in our library

13. 13.

    Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007;447:87-91.

    Not in our library10.1038/nature05756

14. 14.

    Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981;4:186-197.

    Not in our library10.1002/mus.880040304

15. 15.

    Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB. The natural history of Duchenne muscular dystrophy: a caveat for therapeutic trials. Trans Am Neurol Assoc. 1981;106:195-199.

    Not in our library

16. 16.

    Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Miller JP, et al. Clinical investigation in Duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history. Muscle Nerve. 1983;6:91-103.

    Not in our library10.1002/mus.880060204

17. 17.

    Mendell JR, Province MA, Moxley RT, Griggs RC, Brooke MH, Fenichel GM, et al. Clinical investigation of Duchenne muscular dystrophy. A methodology for therapeutic trials based on natural history controls. Arch Neurol. 1987;44:808-811.

    Not in our library10.1001/archneur.1987.00520200012009

18. 18.

    Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Florence J, et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. 1989;39:475-481.

    Not in our library10.1212/wnl.39.4.475

19. 19.

    Griggs RC, Moxley RT, Mendell JR, Fenichel GM, Brooke MH, Pestronk A, et al. Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Arch Neurol. 1991;48:383-388.

    Not in our library10.1001/archneur.1991.00530160047012

20. 20.

    Fowler WM, Abresch RT, Aitkens S, Carter GT, Johnson ER, Kilmer DD, et al. Profiles of neuromuscular diseases. Design of the protocol. Am J Phys Med Rehabil. 1995;74(suppl):S62-69.

    Not in our library10.1097/00002060-199509001-00002

21. 21.

    Beenakker EA, Maurits NM, Fock JM, Brouwer OF, van der Hoeven JH. Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients. Eur J Paediatr Neurol. 2005;9:387-393.

    Not in our library10.1016/j.ejpn.2005.06.004

22. 22.

    Pradhan S, Ghosh D, Srivastava NK, Kumar A, Mittal B, Pandey CM, et al. Prednisolone in Duchenne muscular dystrophy with imminent loss of ambulation. J Neurol. 2006;253:1309-1316.

    Not in our library10.1007/s00415-006-0212-1

23. 23.

    Mayhew JE, Florence JM, Mayhew TP, Henricson EK, Leshner RT, McCarter RJ, et al. Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy. Muscle Nerve. 2007;35:36-42.

    Not in our library10.1002/mus.20654

24. 24.

    Beenakker EA, van der Hoeven JH, Fock JM, Maurits NM. Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry. Neuromuscul Disord. 2001;11:441-446.

    Not in our library10.1016/s0960-8966(01)00193-6

25. 25.

    Hyde SA, Steffensen BF, Floytrup I, Glent S, Kroksmark AK, Salling B, et al. Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy. Neuromuscul Disord. 2001;11:165-170.

    Not in our library10.1016/s0960-8966(00)00175-9

26. 26.

    Geiger R, Strasak A, Treml B, Gasser K, Kleinsasser A, Fischer V, et al. Six-minute walk test in children and adolescents. J Pediatr. 2007;150:395-399.

    Not in our library10.1016/j.jpeds.2006.12.052

27. 27.

    Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, et al. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology. 2012;79:159-162.

    Not in our library10.1212/wnl.0b013e31825f04ea

28. 28.

    Mendell JR, Moxley RT, Griggs RC, Brooke MH, Fenichel GM, Miller JP, et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med. 1989;320:1592-1597.

    Not in our library10.1056/nejm198906153202405

29. 29.

    McDonald CM, Henricson EK, Abresch RT, Han JJ, Escolar DM, Florence JM, et al. The CINRG Duchenne Natural History Study—a longitudinal natural history study in the era of glucocorticoid therapy: design of the protocol and methods. Muscle Nerve.

    Not in our library10.1002/mus.23807

30. 30.

    Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, et al. Use of corticosteroids in a population-based cohort of boys with Duchenne and Becker muscular dystrophy. J Child Neurol. 2010;25:1319-1324.

    Not in our library10.1177/0883073810362762

31. 31.

    McDonald CM, Abresch RT, Carter GT, Fowler WM, Johnson ER, Kilmer DD, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1995;74(suppl):S70-92.

    Not in our library10.1097/00002060-199509001-00003

32. 32.

    McDonald CM. CINRG Duchenne natural history study overview and future plans; ambulatory clinical endpoints in DMD. NIDRR State of the Science Meeting on Outcome Measures in Duchenne Muscular Dystrophy. 2012.

    Not in our library

33. 33.

    Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med. 2011;364:1513-1522.

    Not in our library10.1056/nejmoa1011367

34. 34.

    Mendell JR, Rodino-Klapac L, Sahenik Z, Roush K, Bird L, Lowes LP, et al. Results at 48 weeks of a phase IIB Extension study of exon-skipping drug Eteplirsen in patients with Duchenne muscular dystrophy (DMD). World Muscle Society Congress. 2012.

    Not in our library

35. 35.

    Wyrwich KW, Nienaber NA, Tierney WM, Wolinsky FD. Linking clinical relevance and statistical significance in evaluating intra-individual changes in health-related quality of life. Med Care. 1999;37:469-478.

    Not in our library10.1097/00005650-199905000-00006

36. 36.

    Yost KJ, Eton DT. Combining distribution- and anchor-based approaches to determine minimally important differences: the FACIT experience. Eval Health Prof. 2005;28:172-191.

    Not in our library10.1177/0163278705275340

37. 37.

    Rubin LJ, Badesch DB, Barst RJ, Galie N, Black CM, Keogh A, et al. Bosentan therapy for pulmonary arterial hypertension. N Engl J Med. 2002;346:896-903.

    Not in our library10.1056/nejmoa012212

38. 38.

    Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase). J Pediatr. 2004;144:581-588.

    Not in our library10.1016/j.jpeds.2004.01.046

39. 39.

    Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006;8:465-473.

    Not in our library10.1097/01.gim.0000232477.37660.fb

40. 40.

    van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362:1396-1406.

    Not in our library10.1056/nejmoa0909859

Cited by papers we hold 5

• Bayesian modeling and simulation to inform rare disease drug development early decision-making: Application to Duchenne muscular dystrophy. · 2022
  Not checked
• Humanizing the mdx mouse model of DMD: the long and the short of it · 2018
  Corrected
• The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review · 2017
  No notice
• Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy · 2015
  No notice
• 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 · 2013
  No notice

Reads

A person counts once a day per paper. We keep no cookie and no address: a reader is a hash that changes every day. Any month under five reads shows no number.