Muscular Dystrophy Questions & Answers

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29. Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, et al. Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. J Hum Genet. 2009 Feb. 54 (2):127-30. [QxMD MEDLINE Link].

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32. McAdam LC, Mayo AL, Alman BA, Biggar WD. The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. Acta Myol. 2012 May. 31 (1):16-20. [QxMD MEDLINE Link].

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34. Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, 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 Aug 13. 378 (9791):595-605. [QxMD MEDLINE Link].

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43. Louis M, Lebacq J, Poortmans JR, Belpaire-Dethiou MC, Devogelaer JP, Van Hecke P, et al. Beneficial effects of creatine supplementation in dystrophic patients. Muscle Nerve. 2003 May. 27 (5):604-10. [QxMD MEDLINE Link].

44. Kley RA, Tarnopolsky MA, Vorgerd M. Creatine for treating muscle disorders. Cochrane Database Syst Rev. 2011 Feb 16. 2:CD004760. [QxMD MEDLINE Link].

45. Hamed SA. Drug evaluation: PTC-124--a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. IDrugs. 2006 Nov. 9 (11):783-9. [QxMD MEDLINE Link].

46. Translarna. European Medicines Agency. Available at https://www.ema.europa.eu/en/medicines/human/EPAR/translarna. February 10, 2022; Accessed: January 24, 2023.

47. Zaidman C, Proud C, McDonald C, Mason S, Guridi M, Wang S, et al. One-year data from ENDEAVOR, a phase 1b trial of delandistrogene moxeparvovec (SRP-9001) in patients with Duchenne muscular dystrophy (DMD) (abstr S48.003). Neurology. 2023 Apr 25. 100 (17 Suppl 2):3717. [Full Text].

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49. A gene transfer therapy study to evaluate the safety and efficacy of SRP-9001 (delandistrogene moxeparvovec) in participants with Duchenne muscular dystrophy (DMD) (EMBARK). ClinicalTrials.gov. Available at https://www.clinicaltrials.gov/study/NCT05096221. 2022 Nov 15; Accessed: June 23, 2023.

50. Ragot T, Vincent N, Chafey P, Vigne E, Gilgenkrantz H, Couton D, et al. Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature. 1993 Feb 18. 361 (6413):647-50. [QxMD MEDLINE Link].

51. Wang Z, Allen JM, Riddell SR, Gregorevic P, Storb R, Tapscott SJ, et al. Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy. Hum Gene Ther. 2007 Jan. 18 (1):18-26. [QxMD MEDLINE Link].

52. Howell JM, Lochmüller H, O'Hara A, Fletcher S, Kakulas BA, Massie B, et al. High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther. 1998 Mar 20. 9 (5):629-34. [QxMD MEDLINE Link].

53. Griggs RC, Karparti G, eds. Myoblast Transfer Therapy (Advances in Experimental Medicine and Biology). Dordrecht, Netherlands: Kluwer Academic Publishers; 1990.

54. Rando TA. Non-viral gene therapy for Duchenne muscular dystrophy: progress and challenges. Biochim Biophys Acta. 2007 Feb. 1772 (2):263-71. [QxMD MEDLINE Link].

55. Wells DJ. Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy. J Muscle Res Cell Motil. 2006. 27 (5-7):387-98. [QxMD MEDLINE Link].

56. Judge LM, Chamberlain JS. Gene therapy for Duchenne muscular dystrophy: AAV leads the way. Acta Myol. 2005 Dec. 24 (3):184-93. [QxMD MEDLINE Link].

57. 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 Apr. 39 (4):475-81. [QxMD MEDLINE Link].

58. Heckmatt JZ, Dubowitz V, Hyde SA, Florence J, Gabain AC, Thompson N. Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases. Dev Med Child Neurol. 1985 Apr. 27 (2):149-54. [QxMD MEDLINE Link].

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Twee T Do, MD Clinical Faculty, Rocky Vista University College of Osteopathic Medicine; Attending Surgeon, Advanced Orthopedics

Twee T Do, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Academy of Pediatrics, Colorado Medical Society, Scoliosis Research Society, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Jeffrey D Thomson, MD Professor of Orthopedic Surgery, University of Connecticut School of Medicine; Orthopedic Surgeon, Connecticut Children’s Medical Center

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America, Scoliosis Research Society

Disclosure: Nothing to disclose.

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

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