Muscular dystrophies

References

Key articles

Mercuri E, Finkel RS, Muntoni F, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103-15.Full text  Abstract

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-67.Full text  Abstract

Finkel RS, Mercuri E, Meyer OH, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207.Full text  Abstract

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-61.Full text  Abstract

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-55.Full text  Abstract

Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017 Sep 26;136(13):e200-31.Full text  Abstract

Gloss D, Moxley RT 3rd, Ashwal S, et al. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb 2;86(5):465-72.Full text  Abstract

Reference articles

1. Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019 Nov 30;394(10213):2025-38. Abstract

2. Straub V, Murphy A, Udd B, et al; LGMD workshop study group. 229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord. 2018 Aug;28(8):702-10.Full text  Abstract

3. Mercuri E, Finkel RS, Muntoni F, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103-15.Full text  Abstract

4. Finkel RS, Sejersen T, Mercuri E, et al; ENMC SMA Workshop Study Group. 218th ENMC International Workshop: revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Neuromuscul Disord. 2017 Jun;27(6):596-605.Full text  Abstract

5. Ishizaki M, Kobayashi M, Adachi K, et al. Female dystrophinopathy: review of current literature. Neuromuscul Disord. 2018 Jul;28(7):572-81. Abstract

6. Hoffman EP, Arahata K, Minetti C, et al. Dystrophinopathy in isolated cases of myopathy in females. Neurology. 1992 May;42(5):967-75. Abstract

7. Zellweger H, Afifi A, McCormick WF, et al. Severe congenital muscular dystrophy. Am J Dis Child. 1967 Dec;114(6):591-602. Abstract

8. Ellis JA, Vroom E, Muntoni F. 195th ENMC International Workshop: newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands. Neuromuscul Disord. 2013 Aug;23(8):682-9.Full text  Abstract

9. Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017 Apr 26;12(1):79.Full text  Abstract

10. Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-67.Full text  Abstract

11. Duan D, Goemans N, Takeda S, et al. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021 Feb 18;7(1):13.Full text  Abstract

12. Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018 Dec;8(6):507-20.Full text  Abstract

13. Tawil R, Kissel JT, Heatwole C, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Jul 28;85(4):357-64.Full text  Abstract

14. Narayanaswami P, Weiss M, Selcen D, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14;83(16):1453-63.Full text  Abstract

15. Kang PB, Morrison L, Iannaccone ST, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Mar 31;84(13):1369-78.Full text  Abstract

16. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017 Mar;129(3):e41-55. Abstract

17. Abreu NJ, Waldrop MA. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. Pediatr Pulmonol. 2021 Apr;56(4):710-20. Abstract

18. Thornton CA. Myotonic dystrophy. Neurol Clin. 2014 Aug;32(3):705-19, viii.Full text  Abstract

19. Chaytow H, Faller KME, Huang YT, et al. Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine. Cell Rep Med. 2021 Jul 20;2(7):100346.Full text  Abstract

20. American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 690: carrier screening in the age of genomic medicine. Obstet Gynecol. 2017 Mar;129(3):e35-40.Full text  Abstract

21. Angelini C, Marozzo R, Pegoraro V. Current and emerging therapies in Becker muscular dystrophy (BMD). Acta Myol. 2019 Sep;38(3):172-9.Full text  Abstract

22. Fox H, Millington L, Mahabeer I, et al. Duchenne muscular dystrophy. BMJ. 2020 Jan 23;368:l7012. Abstract

23. Aartsma-Rus A, Hegde M, Ben-Omran T, et al. Evidence-based consensus and systematic review on reducing the time to diagnosis of Duchenne muscular dystrophy. J Pediatr. 2019 Jan;204:305-13.e14.Full text  Abstract

24. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016 Mar;53(3):145-51.Full text  Abstract

25. Amato AA, Russell JA. Neuromuscular disorders. New York, NY: McGraw-Hill; 2008.

26. Korzeniewski SJ, Birbeck G, DeLano MC, et al. A systematic review of neuroimaging for cerebral palsy. J Child Neurol. 2008 Feb;23(2):216-27. Abstract

27. Bach JR, Kang SW. Disorders of ventilation: weakness, stiffness, and mobilization. Chest. 2000 Feb;117(2):301-3.Full text  Abstract

28. Finkel RS, Mercuri E, Meyer OH, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207.Full text  Abstract

29. Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-61.Full text  Abstract

30. Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-55.Full text  Abstract

31. Quinlivan R, Messer B, Murphy P, et al; ANSN. Adult North Star Network (ANSN): consensus guideline for the standard of care of adults with Duchenne muscular dystrophy. J Neuromuscul Dis. 2021;8(6):899-926.Full text  Abstract

32. Tamura T, Shibuya N, Hashiba K, et al. Evaluation of myocardial damage in Duchenne's muscular dystrophy with thallium-201 myocardial SPECT. Jpn Heart J. 1993 Jan;34(1):51-61. Abstract

33. El-Aloul B, Altamirano-Diaz L, Zapata-Aldana E, et al. Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: a systematic review. Neuromuscul Disord. 2017 Jan;27(1):4-14. Abstract

34. Bourke JP, Bueser T, Quinlivan R. Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. Cochrane Database Syst Rev. 2018 Oct 16;(10):CD009068.Full text  Abstract

35. McNally EM, Kaltman JR, Benson DW, et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy. Circulation. 2015 May 5;131(18):1590-8.Full text  Abstract

36. Porcher R, Desguerre I, Amthor H, et al. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy - analysis of registry data. Eur Heart J. 2021 May 21;42(20):1976-84.Full text  Abstract

37. Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017 Sep 26;136(13):e200-31.Full text  Abstract

38. 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 Feb;14(2):153-61.Full text  Abstract

39. Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial. Orphanet J Rare Dis. 2017 Feb 20;12(1):39.Full text  Abstract

40. Khan A, Frazer-Green L, Amin R, et al. Respiratory management of patients with neuromuscular weakness: an American College of Chest Physicians clinical practice guideline and expert panel report. Chest. 2023 Mar 13;S0012-3692(23)00353-7.Full text  Abstract

41. Wang CH, Bonnemann CG, Rutkowski A, et al; International Standard of Care Committee for Congenital Muscular Dystrophy. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010 Dec;25(12):1559-81.Full text  Abstract

42. Barnett V, Bach JR. Psychological considerations in the treatment of individuals with generalized neuromuscular disorders. Semin Neurol. 1995 Mar;15(1):58-64. Abstract

43. Gloss D, Moxley RT 3rd, Ashwal S, et al. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb 2;86(5):465-72.Full text  Abstract

44. Matthews E, Brassington R, Kuntzer T, et al. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2016 May 5;(5):CD003725.Full text  Abstract

45. McDonald CM, Henricson EK, Abresch RT, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet. 2018 Feb 3;391(10119):451-61. Abstract

46. Zhang T, Kong X. Recent advances of glucocorticoids in the treatment of Duchenne muscular dystrophy (review). Exp Ther Med. 2021 May;21(5):447.Full text  Abstract

47. Biggar WD, Skalsky A, McDonald CM. Comparing deflazacort and prednisone in Duchenne muscular dystrophy. J Neuromuscul Dis. 2022;9(4):463-76.Full text  Abstract

48. Guglieri M, Bushby K, McDermott MP, et al. Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne muscular dystrophy: a randomized clinical trial. JAMA. 2022 Apr 19;327(15):1456-68.Full text  Abstract

49. Quattrocelli M, Zelikovich AS, Salamone IM, et al. Mechanisms and clinical applications of glucocorticoid steroids in muscular dystrophy. J Neuromuscul Dis. 2021;8(1):39-52.Full text  Abstract

50. Voet NB, van der Kooi EL, van Engelen BG, et al. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2019 Dec 6;(12):CD003907.Full text  Abstract

51. Gianola S, Castellini G, Pecoraro V, et al. Effect of muscular exercise on patients with muscular dystrophy: a systematic review and meta-analysis of the literature. Front Neurol. 2020;11:958.Full text  Abstract

52. Schofield C, Evans K, Young H, et al. The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophy. Disabil Rehabil. 2022 May;44(10):1889-97. Abstract

53. Rose KJ, Burns J, Wheeler DM, et al. Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database Syst Rev. 2010 Feb 17;(2):CD006973.Full text  Abstract

54. Cheuk DK, Wong V, Wraige E, et al. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2015 Oct 1;(10):CD005375.Full text  Abstract

55. Mahajan KR, Bach JR, Saporito L, et al. Diaphragm pacing and noninvasive respiratory management of amyotrophic lateral sclerosis/motor neuron disease. Muscle Nerve. 2012 Dec;46(6):851-5. Abstract

56. DiPALS Writing Committee; DiPALS Study Group Collaborators. Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. Lancet Neurol. 2015 Sep;14(9):883-92.Full text  Abstract

57. Wadman RI, van der Pol WL, Bosboom WM, et al. Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev. 2020 Jan 6;(1):CD006282.Full text  Abstract

58. Pane M, Coratti G, Pera MC, et al; Italian ISMAC group. Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy. Ann Clin Transl Neurol. 2022 Mar;9(3):404-9.Full text  Abstract

59. Coratti G, Pane M, Lucibello S, et al; iSMAC group. Age related treatment effect in type II spinal muscular atrophy pediatric patients treated with nusinersen. Neuromuscul Disord. 2021 Jul;31(7):596-602. Abstract

60. Pechmann A, Behrens M, Dörnbrack K, et al; SMArtCARE study group. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022 Oct 23;17(1):384.Full text  Abstract

61. Wadman RI, van der Pol WL, Bosboom WM, et al. Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst Rev. 2019 Dec 11;(12):CD006281.Full text  Abstract

62. Medicines and Healthcare products Regulatory Agency. Nusinersen (Spinraza▼): reports of communicating hydrocephalus; discuss symptoms with patients and carers and investigate urgently. Sep 2018 [internet publication].Full text

63. Day JW, Finkel RS, Chiriboga CA, et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021 Apr;20(4):284-93. Abstract

64. Mendell JR, Al-Zaidy SA, Lehman KJ, et al. Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy. JAMA Neurol. 2021 Jul 1;78(7):834-41.Full text  Abstract

65. Mercuri E, Muntoni F, Baranello G, et al; STR1VE-EU study group. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021 Oct;20(10):832-41. Abstract

66. Blair HA. Onasemnogene abeparvovec: a review in spinal muscular atrophy. CNS Drugs. 2022 Sep;36(9):995-1005.Full text  Abstract

67. Weiß C, Ziegler A, Becker LL, et al. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. Abstract

68. Baranello G, Darras BT, Day JW, et al; FIREFISH Working Group. Risdiplam in type 1 spinal muscular atrophy. N Engl J Med. 2021 Mar 11;384(10):915-23.Full text  Abstract

69. Mercuri E, Deconinck N, Mazzone ES, et al; SUNFISH Study Group. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Lancet Neurol. 2022 Jan;21(1):42-52. Abstract

70. Masson R, Mazurkiewicz-Bełdzińska M, Rose K, et al; FIREFISH Study Group. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Lancet Neurol. 2022 Dec;21(12):1110-9. Abstract

71. Bartels B, Montes J, van der Pol WL, et al. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev. 2019 Mar 1;(3):CD012120.Full text  Abstract

72. Taylor LP, Besbris JM, Graf WD, et al. Clinical guidance in neuropalliative care: an AAN position statement. Neurology. 2022 Mar 8;98(10):409-16.Full text  Abstract

73. Andrews JG, Wahl RA. Duchenne and Becker muscular dystrophy in adolescents: current perspectives. Adolesc Health Med Ther. 2018 Mar 15;9:53-63.Full text  Abstract

74. Proud C, Zaidman C, Shieh P, et al. Integrated analyses of data from clinical trials of delandistrogene moxeparvovec (SRP-9001) in Duchenne muscular dystrophy (DMD) (S48.006). Neurology. 2023 Apr 28;100(suppl 17):3712. Full text

75. ClinicalTrials.gov. A gene transfer therapy study to evaluate the safety of delandistrogene moxeparvovec (SRP-9001) in participants with Duchenne muscular dystrophy (DMD). ClinicalTrials.gov Identifier: NCT03375164. Jul 2023 [internet publication].Full text

76. ClinicalTrials.gov. A randomized, double-blind, placebo-controlled study of SRP-9001 (delandistrogene moxeparvovec) for Duchenne muscular dystrophy (DMD). ClinicalTrials.gov Identifier: NCT03769116. Jul 2022 [internet publication].Full text

77. ClinicalTrials.gov. A gene transfer therapy study to evaluate the safety of and expression from delandistrogene moxeparvovec (SRP-9001) in participants with Duchenne muscular dystrophy (DMD) (ENDEAVOR). ClinicalTrials.gov Identifier: NCT04626674. Jul 2023 [internet publication].Full text

78. Markati T, Oskoui M, Farrar MA, et al. Emerging therapies for Duchenne muscular dystrophy. Lancet Neurol. 2022 Sep;21(9):814-29. Abstract

79. McDonald CM, Campbell C, Torricelli RE, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23;390(10101):1489-98. Abstract

80. National Institute for Health and Care Excellence. Ataluren for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene. Feb 2023 [internet publication].​Full text

81. Van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007 Dec 27;357(26):2677-86.Full text  Abstract

82. McDonald CM, Shieh PB, Abdel-Hamid HZ, et al; Italian DMD Telethon Registry Study Group, Leuven NMRC Registry Investigators, CINRG Duchenne Natural History Investigators, and PROMOVI Trial Clinical Investigators. Open-label evaluation of eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: PROMOVI Trial. J Neuromuscul Dis. 2021;8(6):989-1001.Full text  Abstract

83. Mendell JR, Khan N, Sha N, et al; Eteplirsen Study Group. Comparison of long-term ambulatory function in patients with Duchenne muscular dystrophy treated with eteplirsen and matched natural history controls. J Neuromuscul Dis. 2021;8(4):469-79.Full text  Abstract

84. Frank DE, Schnell FJ, Akana C, et al; SKIP-NMD Study Group. Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology. 2020 May 26;94(21):e2270-82.Full text  Abstract

85. Servais L, Mercuri E, Straub V, et al; SKIP-NMD Study Group. Long-term safety and efficacy data of golodirsen in ambulatory patients with Duchenne muscular dystrophy amenable to exon 53 skipping: a first-in-human, multicenter, two-part, open-label, phase 1/2 trial. Nucleic Acid Ther. 2022 Feb;32(1):29-39.Full text  Abstract

86. Clemens PR, Rao VK, Connolly AM, et al. Safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping: a phase 2 randomized clinical trial. JAMA Neurol. 2020 Aug 1;77(8):982-91.Full text  Abstract

87. Wagner KR, Kuntz NL, Koenig E, et al. Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: a randomized, double-blind, placebo-controlled, dose-titration trial. Muscle Nerve. 2021 Sep;64(3):285-92.Full text  Abstract

88. ClinicalTrials.gov. Study of SRP-4045 (casimersen) and SRP-4053 (golodirsen) in participants with Duchenne muscular dystrophy (DMD) (ESSENCE). NCT02500381. Feb 2023 [internet publication].Full text

89. ClinicalTrials.gov. Microdystrophin gene transfer study in adolescents and children with DMD (IGNITE DMD). NCT03368742. Apr 2023 [internet publication].Full text

90. Solid Biosciences. Solid Biosciences provides SGT-001 program update. Nov 2019 [internet publication].Full text

91. Previtali SC, Gidaro T, Díaz-Manera J, et al. Rimeporide as a first- in-class NHE-1 inhibitor: results of a phase Ib trial in young patients with Duchenne muscular dystrophy. Pharmacol Res. 2020 Sep;159:104999.Full text  Abstract

92. Garegnani L, Hyland M, Roson Rodriguez P, et al. Antioxidants to prevent respiratory decline in people with Duchenne muscular dystrophy and progressive respiratory decline. Cochrane Database Syst Rev. 2021 Dec 1;(12):CD013720.Full text  Abstract

93. Servais L, Straathof CSM, Schara U, et al; SYROS and CINRG DNHS Investigators. Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2020 Jan;30(1):5-16.Full text  Abstract

94. Guglieri M, Clemens PR, Perlman SJ, et al. Efficacy and safety of vamorolone vs placebo and prednisone among boys with Duchenne muscular dystrophy: a randomized clinical trial. JAMA Neurol. 2022 Oct 1;79(10):1005-14.Full text  Abstract

95. Bettica P, Petrini S, D'Oria V, et al. Histological effects of givinostat in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2016 Oct;26(10):643-9.Full text  Abstract

96. ClinicalTrials.gov. Clinical study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne muscular dystrophy. NCT02851797. Feb 2023 [internet publication].Full text

97. ClinicalTrials.gov. A study to evaluate the safety and tolerability of PF-06939926 gene therapy in Duchenne muscular dystrophy. NCT03362502. Dec 2022 [internet publication].Full text

98. Pfizer. Pfizer’s new phase 1b results of gene therapy in ambulatory boys with Duchenne muscular dystrophy (DMD) support advancement into pivotal phase 3 study. May 2020 [internet publication].Full text

99. ClinicalTrails.gov. A phase 3 study to evaluate the safety and efficacy of PF-06939926 for the treatment of Duchenne muscular dystrophy. NCT04281485. May 2023 [internet publication].Full text

100. ClinicalTrials.gov. AFFINITY DUCHENNE: RGX-202 gene therapy in participants with Duchenne muscular dystrophy (DMD)​. NCT05693142. Mar 2023 [internet publication].Full text

101. McDonald CM, Marbán E, Hendrix S, et al; HOPE-2 Study Group. Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet. 2022 Mar 12;399(10329):1049-58.Full text  Abstract

102. ClinicalTrials.gov. Safety, tolerability, pharmacokinetics, and biological activity of ATYR1940 in adult participants with muscular dystrophy.​ NCT02239224. Aug 2021 [internet publication].Full text

103. ClinicalTrials.gov. Study to evaluate the long-term safety, tolerability, and biological activity of ATYR1940 in patients with limb girdle and facioscapulohumeral muscular dystrophy (FSHD).​ NCT02836418. Apr 2017 [internet publication].Full text

104. Crawford T, Darras B, Day J, et al. Apitegromab in spinal muscular atrophy (SMA): an analysis of multiple efficacy endpoints in the TOPAZ Trial (P15-5.005). ​Paper presented at: 2022 AAN annual meeting. N1 - neuroscience in the clinic: neurobiology of learning and memory in 2022. Apr 2-7 2022. Online and in person. Neurology. 2022 May 3;98(18 Supplement):1859.Full text

105. ClinicalTrials.gov. An active treatment study of SRK-015 in patients with type 2 or type 3 spinal muscular atrophy (TOPAZ).​ NCT03921528. Apr 2023 [internet publication].Full text

106. ClinicalTrials.gov. Efficacy and safety of apitegromab in patients with later-onset spinal muscular atrophy treated with nusinersen or risdiplam (SAPPHIRE).​ NCT05156320. May 2023 [internet publication].Full text

107. ClinicalTrials.gov. A study to evaluate the efficacy and safety of taldefgrobep alfa in participants with spinal muscular atrophy (RESILIENT). ​NCT05337553. Jun 2023 [internet publication].Full text

108. Bell JM, Shields MD, Watters J,et al. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2017 Jan 24;(1):CD010899.Full text  Abstract

109. Bach JR, Bardach JL. Neuromuscular diseases. In: Sipski ML, Alexander CJ, eds. Sexual function in people with disability and chronic illness: a health practitioner's guide. Gaithersburg, MD: Aspen; 1997:147-60.

110. Morgenthaler TI, Kapur VK, Brown T, et al; Standards of Practice Committee of the American Academy of Sleep Medicine. Practice parameters for the treatment of narcolepsy and other hypersomnias of central origin. Sleep. 2007 Dec;30(12):1705-11.Full text  Abstract

111. Kraus D, Wong BL, Horn PS, et al. Constipation in Duchenne muscular dystrophy: prevalence, diagnosis, and treatment. J Pediatr. 2016 Apr;171:183-8. Abstract

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