Overview of new and even newer drugs for Duchenne muscular dystrophy and spinal muscular atrophy

1. Mercuri E, Mayhew A, Muntoni F, et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental. Neuromuscul Disord 2008 Nov; 18 (11): 894–903. doi: 10.1016/j.nmd.2008.07.003.

2. Bushby K, Lynn S, Straub V, et al. Collaborating to bring new therapies to the patient-the TREAT-NMD model. Acta Myol 2009 Jul; 28 (1): 12–15.

3. Bednařík J, et al. Nemoci kosterního svalstva. Praha: Triton, 2001.

4. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018; 17 (3): 251–267.

5. Gloss D, Moxley RT, Ashwal S, et al. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy. Neurology 2016; 86: 465–472.

6. Griggs RC, Miller JP, Greenberg CR, et al. Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy. Neurology 2016 Nov 15; 87 (20): 2123–2131.

7. Heier CR, Damsker JM, Yu Q, et al. VBP15, a novel anti–inflammatory and membrane–stabilizer, improves muscular dystrophy without side effects. EMBO Mol Med 2013 Oct; 5 (10): 1569–1585.

8. Hoffman EP, Riddle V, Siegler MA, et al. Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes. Steroids 2018 Jun 1; 134: 43–52.

9. 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): 1489–1498.

10. Aartsma–Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense–mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutation 2009 Mar; 30 (3): 293–299.

11. Aartsma-Rus A, Bremmer-Bout M, Janson AA. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord 2002 Oct; 12 (Suppl): S71–S77.

12. Buyse GM, Voit T, Schara U, et al. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Lancet 2015 May 2; 385 (9979): 1748–1757.

13. Nguyen TM, Ellis JM, Love DR, et al. Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in prolifera. J Cell Biol 1991 Dec; 115 (6): 1695–1700.

14. Ricotti V, Spinty S, Roper H, et al. Safety, tolerability, and pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole utrophin modulator, following single-and multiple-dose administration to pediatric patients with Duchenne muscular dystrophy. PLoS One 2016 Apr 7; 11 (4): e0152840.

15. Tinsley JM, Fairclough RJ, Storer R, et al. Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One 2011; 6 (5): e19189.

16. Gregorevic P, Blankinship MJ, Allen JM, et al. Systemic microdystrophin gene delivery improves skeletal muscle structure and function in old dystrophic mdx mice. Mol Ther 2008 Apr; 16 (4): 657–664.

17. Melki J, Abdelhak S, Sheth P, et al. Gene for proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990 Apr 19; 344 (6268): 767–768.

18. Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999 Jul; 8 (7): 1177–1183.

19. Singh NN, Howell MD, Androphy EJ, et al. How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. Gene Ther 2017 Sep; 24 (9): 520–526.

20. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham control in infantile-onset Spinal muscular atrophy. N Engl J Med 2017; 377: 1723–1732.

21. Finkel R, Bertini E, Muntoni F, et al. 209th ENMC international workshop: outcome measures and clinical trial readiness in spinal muscular atrophy 7–9 November 2014, Heemskerk, The Netherlands. Neuromuscul Disord 2015; 25: 593–602.

22. Glanzman AM, Mazzone E, Main M, et al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord 2010 Mar; 20 (3): 155–161.

23. Naryshkin NA, Weetall M, Dakka A, et al. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science 2014 Aug; 345 (6197): 688–693.

24. Dominguez E, Marais T, Chatauret N, et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 2008; 58 (5): 681–693.

25. Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med 2017; 377: 1713–1722.

26. Bertini E, Dessaud E, Mercuri E, et al. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol 2017 Jul; 16 (7): 513–522.

27. Kieny P, Chollet S, Delalande P, et al. Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011. Ann Phys Rehabil Med 2013 Jun; 56 (6): 443–454.