Molecular therapeutic strategies for spinal muscular atrophies: Current and future clinical trials

Clinical Therapeutics

Volumn 36, Issue 1, 2014, Pages 128-140

  Zanetta, Chiara ^a   Nizzardo, Monica ^a   Simone, Chiara ^a   Monguzzi, Erika ^a   Bresolin, Nereo ^a   Comi, Giacomo P ^a   Corti, Stefania ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

clinical trials; gene therapy; olesoxime; oligonucleotides; small molecules; spinal muscular atrophy

Indexed keywords

ISIS SMN RX; OLESOXIME; OLIGONUCLEOTIDE; QUINAZOLINE DERIVATIVE; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL TRIAL (TOPIC); HUMAN; MOLECULAR THERAPY; NEUROPROTECTION; NONHUMAN; NONVIRAL GENE THERAPY; OLIGONUCLEOTIDE THERAPY; SPINAL MUSCULAR ATROPHY; SYSTEMATIC REVIEW;

CLINICAL TRIALS; GENE THERAPY; ISIS-SMN(RX); OLESOXIME; OLIGONUCLEOTIDES; SMALL MOLECULES; SPINAL MUSCULAR ATROPHY;

CLINICAL TRIALS AS TOPIC; GENETIC THERAPY; HUMANS; MOLECULAR TARGETED THERAPY; MUSCULAR ATROPHY, SPINAL; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84892373557     PISSN: 01492918     EISSN: 1879114X     Source Type: Journal    
DOI: 10.1016/j.clinthera.2013.11.006     Document Type: Review

References (33)

1. S. Ogino, D.G. Leonard, and H. Rennert et al. Genetic risk assessment in carrier testing for spinal muscular atrophy Am J Med Genet 110 2002 301 307
2. T.W. Prior Spinal muscular atrophy: a time for screening Curr Opin Pediatr 22 2010 696 702
3. L.M. Brzustowicz, T. Lehner, and L.H. Castilla et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 Nature 344 1990 540 541
4. S. Lefebvre, L. Burglen, and S. Reboullet et al. Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
5. T.L. Munsat, and K.E. Davies International SMA consortium meeting (26-28 June 1992, Bonn, Germany) Neuromuscul Disord 2 1992 423 428
6. C.H. Wang, R.S. Finkel, and E.S. Bertini et al. Consensus statement for standard of care in spinal muscular atrophy J Child Neurol 22 2007 1027 1049
7. A. D'Amico, E. Mercuri, and F.D. Tiziano et al. Spinal muscular atrophy Orphanet J Rare Dis 6 2011 71
8. K.J. Swoboda, C.B. Scott, and S.P. Reyna et al. Phase II open label study of valproic acid in spinal muscular atrophy PLoS One 4 2009 e5268
9. K.J. Swoboda, C.B. Scott, and T.O. Crawford et al. Project Cure Spinal Muscular Atrophy Investigators Network. SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy PLoS One 5 2010 e12140
10. F.D. Tiziano, R. Lomastro, and A.M. Pinto et al. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design J Med Genet 47 2010 856 858
11. J.T. Kissel, C.B. Scott, and S.P. Reyna et al. Project Cure Spinal Muscular Atrophy Investigators' Network. SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy PLoS One 6 2011 e21296
12. Cano SJ, Mayhew A, Glanzman AM, et al. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2013 Jul 8 [Epub ahead of print]
13. F.D. Tiziano, E. Bertini, and S. Messina et al. The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study Neuromuscul Disord 17 2007 400 403
14. S. Rudnik-Schöneborn, C. Berg, and K. Zerres et al. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling Clin Genet 76 2009 168 178
15. E. Mercuri, E. Bertini, and S.T. Iannaccone Childhood spinal muscular atrophy: controversies and challenges Lancet Neurol 11 2012 443 452
16. C.M. Lutz, S. Kariya, and S. Patruni et al. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy J Clin Invest 121 2011 3029 3041
17. K.J. Swoboda, T.W. Prior, and C.B. Scott et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function Ann Neurol 57 2005 704 712
18. T. Bordet, B. Buisson, and M. Michaud et al. Identification and characterization of cholest-4-en-3-one, oxime (TRO19622), a novel drug candidate for amyotrophic lateral sclerosis J Pharmacol Exp Ther 322 2007 709 720
19. ClinicalTrial.gov. Safety and efficacy of olesoxime (TRO19622) in 3-25 years SMA patients. http://clinicaltrials.gov/show/NCT01302600. Accessed October 8, 2013.
20. Trophos. Therapeutic programs, spinal muscular atrophy. http://www.trophos.com/research/spinal.htm. Accessed June 15, 2013.
21. Families of Spinal Muscular Atrophy (FSMA). http://www.fsma.org. Accessed October 8, 2013.
22. P.N. Porensky, and A.H. Burghes Antisense oligonucleotides for the treatment of spinal muscular atrophy Hum Gene Ther 24 2013 489 498
23. Y. Hua, K. Sahashi, and G. Hung et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model Genes Dev 24 2010 1634 1644
24. M.A. Passini, J. Bu, and A.M. Richards et al. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy Sci Transl Med 3 2011 72ra18
25. Y. Hua, K. Sahashi, and F. Rigo et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model Nature 478 2011 123 126
26. ClinicalTrial.gov. An open-label safety, tolerability, and dose-range finding study of ISIS SMNRx in patients with spinal muscular atrophy. http://clinicaltrials.gov/ct2/show/NCT01494701. Accessed October 7, 2013
27. Isis Pharmaceuticals. http://www.isispharm.com/index.htm. Accessed October 7, 2013.
28. ClinicalTrial.gov. An open-label safety and tolerability study of ISIS SMNRx in patients with spinal muscular atrophy who previously participated in ISIS 396443-CS1. http://clinicaltrials.gov/ct2/show/NCT01780246. Accessed October 7, 2013.
29. ClinicalTrial.gov. An open-label safety, tolerability and dose-range finding study of multiple doses of ISIS SMNRx in patient with spinal muscular atrophy (SMNRx-CS2). (http://clinicaltrials.gov/ct2/show/NCT01703988. Accessed September 15, 2013.
30. ClinicalTrial.gov. A study to assess the safety and pharmacokinetics of ISIS SMNRx in infants with spinal muscular atrophy. http://www.clinicaltrials. gov/ct2/show/NCT01839656. Accessed October 6, 2013.
31. J. Singh, M. Salcius, and S.W. Liu et al. DcpS as a therapeutic target for spinal muscular atrophy ACS Chem Biol 3 2008 711 722
32. J. Jarecki, X. Chen, and A. Bernardino et al. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy Hum Mol Genet 14 2005 2003 2018
33. J. Thurmond, M.E. Butchbach, and M. Palomo et al. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy J Med Chem 51 2008 449 469