82
Views
0
CrossRef citations to date
0
Altmetric
Review

Drugs in development and dietary approach for Duchenne muscular dystrophy

&
Pages 51-60 | Published online: 11 Aug 2015

References

  • Finkel RS, Flanigan KM, Wong B, et al. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One. 2013;8:e81302.
  • Angelini C. Neuromuscular diseases: advances in therapy and diagnosis. Lancet Neurol. 2012;11:15–17.
  • Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77–93.
  • Melacini P.. Cardiac problems in DMD. In: Angelini C, editor. Muscular Dystrophy: Causes and Management. New York, NY, USA: Nova Science Publishing; 2013:367–380.
  • Angelini C, Pegoraro E, Turella E, Intino MT, Pini A, Costa C. Deflazacort in Duchenne dystrophy: study of long-term effect. Muscle Nerve. 1994;17:386–391.
  • Mesa L, Dubrovsky AL, Corderi J, Marco P, Flores D. Steroids in Duchenne muscular dystrophy: deflazacort trial. Neuromuscul Disord. 1991;1:261–266.
  • Mendell JR, Moxley RT, Griggs RG, et al. Randomized, double-blind six-month trial of prednisone in Duchenne’s muscular dystrophy. N Engl J Med. 1989;320:1592–1597.
  • Griggs RC, Moxley RT, Mendell JR, et al. Prednisone in Duchenne dystrophy: a randomized, controlled trial defining the time course and dose response. Arch Neurol. 1991;48:383–388.
  • Fanin M, Danieli GA, Cadaldini M, Miorin M, Vitiello L, Angelini C. Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course. Muscle Nerve. 1995;18:1115–1120.
  • Vanhoutte EK, Faber CG, van Nes SI, et al. Modifying the Medical Research Council grading system through Rasch analyses. Brain. 2012;135:1639–1649.
  • Angelini C. The role of corticosteroids in muscular dystrophy: a critical appraisal. Muscle Nerve. 2007;36:424–435.
  • Semplicini C, Angelini C.. Clinical scales for the evaluation of neuromuscular patients. In: Angelini C, editor. Muscular Dystrophy: Causes and Management. New York, NY, USA: Nova Science Publishing; 2013:55–65.
  • Bonifati DM, Ruzza G, Bonometto P, et al. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve. 2000;23:1344–1347.
  • Biggar WD, Harris VA, Eliasoph L, Alman B. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord. 2006;16:249–255.
  • Fenichel GM, Mendell JR, Moxley RT, et al. A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy. Arch Neurol. 1991;48:575–579.
  • Backman E, Henriksson KG. Low-dose prednisolone treatment in Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 1995;5:233–241.
  • Loftus J, Allen R, Hesp R, et al. Randomized double-blind trial of deflazacort versus prednisone in juvenile chronic (or rheumatoid) arthritis: a relatively bone sparing effect of deflazacort. Pediatrics. 1991;88:428–436.
  • Dubowitz V. 75th European Neuromuscular Center International Workshop: second workshop on the treatment of muscular dystrophy, December 10–12, 1999, Naarden, The Netherlands. Neuromuscul Disord. 2000;10:313–320.
  • Dubrovsky AL, Angelini C.. Treatment with steroids of DMD. In: Angelini C, editor. Muscular Dystrophy: Causes and Management. New York, NY, USA: Nova Science Publishing; 2013:439–453.
  • Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2008;1:CD003725.
  • Fenichel G, Pestronk A, Florence J, Robison V, Hemelt V. A beneficial effect of oxandrolone in the treatment of Duchenne muscular dystrophy: a pilot study. Neurology. 1997;48:1225–1226.
  • Fenichel GM, Griggs RC, Kissel J, et al. A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne dystrophy. Neurology. 2001;56:1075–1079.
  • Consalvi S, Mozzetta C, Bettica P, et al. Preclinical studies in the Mdx mouse model of Duchenne muscular dystrophy with the histone deacetylase inhibitor givinostat. Mol Med. 2013;19:79–87.
  • Politano L, Nigro G, Nigro V, et al. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol. 2003;22:15–21.
  • Wagner KR, Hamed S, Hadley DW, et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol. 2001;49:706–711.
  • McDonald CM, Henricson EK, Abresch RT, et al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve. 2013;48:343–356.
  • McDonald CM, Henricson EK, Abresch RT, et al. 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. 2013;48:357–368.
  • Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007;447:87–91.
  • Auld DS, Thorne N, Maguire WF, Inglese J. Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression. Proc Natl Acad Sci U S A. 2009;106:3585–3590.
  • Auld DS, Lovell S, Thorne N, et al. Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124. Proc Natl Acad Sci U S A. 2010;107:4878–4883.
  • McElroy SP, Nomura T, Torrie LS, et al. A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol. 2013;11:e1001593.
  • Hoffman EP, Bronson A, Levin AA, et al. Restoring dystrophin expression in Duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through. Am J Pathol. 2011;179:12–22.
  • Van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007;357:2677–2686.
  • Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne’s muscular dystrophy. N Engl J Med. 2011;364:1513–1522.
  • Voit T, Topaloglu H, Straub V, et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 2014;13:987–996.
  • Fletcher S, Honeyman K, Fall AM, Harding PL, Johnsen RD, Wilton SD. Dystrophin expression in the Mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide. J Gene Med. 2006;8:207–216.
  • Alter J, Lou F, Rabinowitz A, et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med. 2006;12:175–177.
  • Sazani P, Ness KP, Weller DL, Poage D, Nelson K, Shrewsbury AS. Chemical and mechanistic toxicology evaluation of exon skipping phosphorodiamidate morpholino oligomers in Mdx mice. Int J Toxicol. 2011;30:322–333.
  • Malerba A, Thorogood FC, Dickson G, Graham IR. Dosing regimen has a significant impact on the efficiency of morpholino oligomer-induced exon skipping in mdx mice. Hum Gene Ther. 2009;20:955–965.
  • Yokota T, Lu QL, Partridge T, et al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol. 2009;65:667–676.
  • Yokota T, Nakamura A, Nagata T, et al. Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs. Nucleic Acid Ther. 2012;22:306–315.
  • Wu B, Lu P, Benrashid E, et al. Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholino. Gene Ther. 2010;17:132–140.
  • Kinali M, Arechavala-Gomeza V, Feng L, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 2009;8:918–928.
  • Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet. 2011;378:595–605.
  • Cirak S, Feng L, Anthony K, et al. Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol Ther. 2012;20:462–467.
  • Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol. 2013;74:637–647.
  • Goyenvalle A, Griffith G, Babbs A, et al. Functional correction in mouse models of muscular dystrophy using exon-skipping tricycle-DNA oligomers. Nat Med. 2015;21:270–275.
  • Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2015;14:153–161.
  • Melacini P, Vianello A, Villanova C, et al. Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. Neuromuscul Disord. 1996;6:367–376.
  • Markham LW, Spicer RL, Khoury PR, Wong BL, Mathews KD, Cripe LH. Steroid therapy and cardiac function in Duchenne muscular dystrophy. Pediatr Cardiol. 2005;26:768–771.
  • Duboc D, Meune C, Lerebours G, Devaux JY, Vaksmann G, Becane HM. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol. 2005;45:855–857.
  • Ogata H, Ishikawa Y, Ishikawa Y, Minami R. Beneficial effects of beta-blockers and angiotensin-converting enzyme inhibitors in Duchenne muscular dystrophy. J Cardiol. 2009;53:72–78.
  • Lehman-Horn F, Weber MA, Nagel AM, et al. Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone. Acta Myol. 2012;31:31–39.
  • Percival JM, Whitehead NP, Adams ME, et al. Sildenafil reduces respiratory muscle weakness and fibrosis in the Mdx mouse model of Duchenne muscular dystrophy. J Pathol. 2012;228:77–87.
  • Leung DG, Herzka DA, Thompson WR, et al. Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy. Ann Neurol. 2014;76:541–549.
  • Chen JY, Yen MH, Chen HS, et al. Health support: health promotion for families with a DMD child. In: Angelini C, editor. Muscular Dystrophy: Causes and Management. New York, NY, USA: Nova Science Publishing; 2013:319–337.
  • Ellis DA. Intermediary metabolism of muscle in Duchenne muscular dystrophy. Br Med Bull. 1980;36:165–171.
  • Angelini C, Tasca E.. Management and clinical trials in Duchenne dystrophy. In: Honorio S, editor. Duchenne Muscular Dystrophy: Symptoms, Management and Prognosis. New York, NY, USA: Nova Science Publishing; 2015. In press.
  • Carrol JE, Norris BJ, Brooke MJ. Defective (U-C14) palmitic oxidation in Duchenne muscular dystrophy. Neurology. 1985;35:96–98.
  • Wehling-Henricks M, Jordan MC, Gotoh T, Grody WW, Roos KP, Tidball JG. Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophy. PLoS One. 2010;5:e10763.
  • Sejerson T, Bushby K, TREAT-NMD EU Network of Excellence. Standards of care for Duchenne muscular dystrophy: brief TREAT- NMD recommendations. Adv Exp Med Biol. 2009;652:13–21.