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Volumn 390, Issue 10101, 2017, Pages 1489-1498

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

(73)  McDonald, Craig M a   Campbell, Craig b   Torricelli, Ricardo Erazo c   Finkel, Richard S d,e   Flanigan, Kevin M f   Goemans, Nathalie g   Heydemann, Peter h   Kaminska, Anna i   Kirschner, Janbernd j   Muntoni, Francesco k   Osorio, Andrés Nascimento l   Schara, Ulrike m   Sejersen, Thomas n   Shieh, Perry B o   Sweeney, H Lee p   Topaloglu, Haluk q   Tulinius, Már r   Vilchez, Juan J s   Voit, Thomas k,t   Wong, Brenda u   more..


Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; DEFLAZACORT; PLACEBO; PREDNISOLONE; PREDNISONE; DYSTROPHIN; OXADIAZOLE DERIVATIVE;

EID: 85024501735     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(17)31611-2     Document Type: Article
Times cited : (362)

References (32)
  • 1
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
    • 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 9 (2010), 77–93.
    • (2010) Lancet Neurol , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3
  • 3
    • 0036895043 scopus 로고    scopus 로고
    • Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
    • Eagle, M, Baudouin, SV, Chandler, C, Giddings, DR, Bullock, R, Bushby, K, Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 12 (2002), 926–929.
    • (2002) Neuromuscul Disord , vol.12 , pp. 926-929
    • Eagle, M.1    Baudouin, S.V.2    Chandler, C.3    Giddings, D.R.4    Bullock, R.5    Bushby, K.6
  • 4
    • 84873020912 scopus 로고    scopus 로고
    • Ataluren as an agent for therapeutic nonsense suppression
    • Peltz, SW, Morsy, M, Welch, EM, Jacobson, A, Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med 64 (2013), 407–425.
    • (2013) Annu Rev Med , vol.64 , pp. 407-425
    • Peltz, S.W.1    Morsy, M.2    Welch, E.M.3    Jacobson, A.4
  • 5
    • 34247588271 scopus 로고    scopus 로고
    • PTC124 targets genetic disorders caused by nonsense mutations
    • Welch, EM, Barton, ER, Zhuo, J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447 (2007), 87–91.
    • (2007) Nature , vol.447 , pp. 87-91
    • Welch, E.M.1    Barton, E.R.2    Zhuo, J.3
  • 6
    • 84892581676 scopus 로고    scopus 로고
    • Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation duchenne muscular dystrophy
    • 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, 8, 2013, e81302.
    • (2013) PLoS One , vol.8 , pp. e81302
    • Finkel, R.S.1    Flanigan, K.M.2    Wong, B.3
  • 7
    • 84927669185 scopus 로고    scopus 로고
    • Ataluren treatment of patients with nonsense mutation dystrophinopathy
    • Bushby, K, Finkel, R, Wong, B, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve 50 (2014), 477–487.
    • (2014) Muscle Nerve , vol.50 , pp. 477-487
    • Bushby, K.1    Finkel, R.2    Wong, B.3
  • 8
    • 79955618736 scopus 로고    scopus 로고
    • Current status of pharmaceutical and genetic therapeutic approaches to treat DMD
    • Pichavant, C, Aartsma-Rus, A, Clemens, PR, et al. Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther 19 (2011), 830–840.
    • (2011) Mol Ther , vol.19 , pp. 830-840
    • Pichavant, C.1    Aartsma-Rus, A.2    Clemens, P.R.3
  • 9
    • 84919625145 scopus 로고    scopus 로고
    • European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene
    • Haas, M, Vlcek, V, Balabanov, P, et al. European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene. Neuromuscul Disord 25 (2015), 5–13.
    • (2015) Neuromuscul Disord , vol.25 , pp. 5-13
    • Haas, M.1    Vlcek, V.2    Balabanov, P.3
  • 10
    • 85032283237 scopus 로고    scopus 로고
    • Timed function tests and other physical function outcomes in ataluren-treated patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)
    • McDonald, C, Reha, A, Elfring, G, Peltz, SW, Spiegel, R, Timed function tests and other physical function outcomes in ataluren-treated patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). Neuromuscul Disord, 24, 2014, 861.
    • (2014) Neuromuscul Disord , vol.24 , pp. 861
    • McDonald, C.1    Reha, A.2    Elfring, G.3    Peltz, S.W.4    Spiegel, R.5
  • 11
    • 84976585919 scopus 로고    scopus 로고
    • Translarna summary of product characteristics
    • (accessed Oct 19, 2016).
    • European Medicines Agency. Translarna summary of product characteristics. http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/002720/WC500171813.pdf (accessed Oct 19, 2016).
  • 12
    • 84910648036 scopus 로고    scopus 로고
    • PTC Therapeutics receives conditional approval in the European Union for Translarna for the treatment of nonsense mutation Duchenne muscular dystrophy
    • (accessed Oct 27, 2016).
    • PTC Therapeutics. PTC Therapeutics receives conditional approval in the European Union for Translarna for the treatment of nonsense mutation Duchenne muscular dystrophy. http://ir.ptcbio.com/releasedetail.cfm?releaseid=863914, 2014 (accessed Oct 27, 2016).
    • (2014)
  • 13
    • 84943188963 scopus 로고    scopus 로고
    • Guideline on the clinical investigation of medicinal products for the treatment of Duchenne and Becker muscular dystrophy
    • (accessed Oct 19, 2016).
    • European Medicines Agency. Guideline on the clinical investigation of medicinal products for the treatment of Duchenne and Becker muscular dystrophy. http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2015/12/WC500199239.pdf, 2015 (accessed Oct 19, 2016).
    • (2015)
  • 14
    • 84992408411 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy and related dystrophinopathies: developing drugs for treatment. Guidance for industry
    • (accessed Oct 19, 2016).
    • US Food and Drug Administration. Duchenne muscular dystrophy and related dystrophinopathies: developing drugs for treatment. Guidance for industry. http://www.fda.gov/downloads/drugs/guidancecomplianceregulatoryinformation/guidances/UCM450229.pdf, 2015 (accessed Oct 19, 2016).
    • (2015)
  • 15
    • 84907487779 scopus 로고    scopus 로고
    • Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes
    • Pane, M, Mazzone, ES, Sivo, S, et al. Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. PLoS One, 9, 2014, e108205.
    • (2014) PLoS One , vol.9 , pp. e108205
    • Pane, M.1    Mazzone, E.S.2    Sivo, S.3
  • 16
    • 77957748915 scopus 로고    scopus 로고
    • North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
    • Mazzone, E, Martinelli, D, Berardinelli, A, et al. North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord 20 (2010), 712–716.
    • (2010) Neuromuscul Disord , vol.20 , pp. 712-716
    • Mazzone, E.1    Martinelli, D.2    Berardinelli, A.3
  • 17
    • 84894248468 scopus 로고    scopus 로고
    • Reliability of the performance of upper limb assessment in Duchenne muscular dystrophy
    • Pane, M, Mazzone, ES, Fanelli, L, et al. Reliability of the performance of upper limb assessment in Duchenne muscular dystrophy. Neuromuscul Disord 24 (2014), 201–206.
    • (2014) Neuromuscul Disord , vol.24 , pp. 201-206
    • Pane, M.1    Mazzone, E.S.2    Fanelli, L.3
  • 18
    • 84975758236 scopus 로고    scopus 로고
    • Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large Duchenne muscular dystrophy cohort
    • Willcocks, RJ, Rooney, WD, Triplett, WT, et al. Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large Duchenne muscular dystrophy cohort. Ann Neurol 79 (2016), 535–547.
    • (2016) Ann Neurol , vol.79 , pp. 535-547
    • Willcocks, R.J.1    Rooney, W.D.2    Triplett, W.T.3
  • 19
    • 85032268559 scopus 로고    scopus 로고
    • Developing skeletal muscle MRI/MRS as a biomarker for DMD therapeutic development
    • (accessed Sept 22, 2016).
    • Sweeney, L, Vandenborne, K, Developing skeletal muscle MRI/MRS as a biomarker for DMD therapeutic development. http://www.parentprojectmd.org/site/DocServer/Session_8_-_Sweeney_b.pdf?docID=15384 (accessed Sept 22, 2016).
    • Sweeney, L.1    Vandenborne, K.2
  • 20
    • 84883055833 scopus 로고    scopus 로고
    • The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study
    • 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 48 (2013), 343–356.
    • (2013) Muscle Nerve , vol.48 , pp. 343-356
    • McDonald, C.M.1    Henricson, E.K.2    Abresch, R.T.3
  • 21
    • 0029374372 scopus 로고
    • Profiles of neuromuscular diseases. Duchenne muscular dystrophy
    • McDonald, CM, Abresch, RT, Carter, GT, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil 74 (1995), S70–S92.
    • (1995) Am J Phys Med Rehabil , vol.74 , pp. S70-S92
    • McDonald, C.M.1    Abresch, R.T.2    Carter, G.T.3
  • 22
    • 77950210043 scopus 로고    scopus 로고
    • The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy
    • McDonald, CM, Henricson, EK, Han, JJ, et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve 41 (2009), 500–510.
    • (2009) Muscle Nerve , vol.41 , pp. 500-510
    • McDonald, C.M.1    Henricson, E.K.2    Han, J.J.3
  • 23
    • 84883050768 scopus 로고    scopus 로고
    • 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
    • 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 48 (2013), 357–368.
    • (2013) Muscle Nerve , vol.48 , pp. 357-368
    • McDonald, C.M.1    Henricson, E.K.2    Abresch, R.T.3
  • 24
    • 84862004315 scopus 로고    scopus 로고
    • Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy
    • Scott, E, Eagle, M, Mayhew, A, et al. Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. Physiother Res Int 17 (2012), 101–109.
    • (2012) Physiother Res Int , vol.17 , pp. 101-109
    • Scott, E.1    Eagle, M.2    Mayhew, A.3
  • 25
    • 84958863314 scopus 로고    scopus 로고
    • The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
    • Ricotti, V, Ridout, DA, Pane, M, et al. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. J Neurol Neurosurg Psychiatry 87 (2016), 149–155.
    • (2016) J Neurol Neurosurg Psychiatry , vol.87 , pp. 149-155
    • Ricotti, V.1    Ridout, D.A.2    Pane, M.3
  • 26
    • 79956006620 scopus 로고    scopus 로고
    • Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy
    • Mayhew, A, Cano, S, Scott, E, Eagle, M, Bushby, K, Muntoni, F, Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 53 (2011), 535–542.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 535-542
    • Mayhew, A.1    Cano, S.2    Scott, E.3    Eagle, M.4    Bushby, K.5    Muntoni, F.6
  • 27
    • 84885183817 scopus 로고    scopus 로고
    • Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy
    • Mayhew, AG, Cano, SJ, Scott, E, et al. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 55 (2013), 1046–1052.
    • (2013) Dev Med Child Neurol , vol.55 , pp. 1046-1052
    • Mayhew, A.G.1    Cano, S.J.2    Scott, E.3
  • 28
    • 0031691511 scopus 로고    scopus 로고
    • The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity and sensitivity to change. Pediatric Outcomes Development Group. Pediatric Orthopaedic Society of America
    • Daltroy, LH, Fossel, AH, Goldberg, MJ, The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity and sensitivity to change. Pediatric Outcomes Development Group. Pediatric Orthopaedic Society of America. J Pediatr Orthop 18 (1998), 561–571.
    • (1998) J Pediatr Orthop , vol.18 , pp. 561-571
    • Daltroy, L.H.1    Fossel, A.H.2    Goldberg, M.J.3
  • 29
    • 0025031812 scopus 로고
    • No adjustments are needed for multiple comparisons
    • Rothman, KJ, No adjustments are needed for multiple comparisons. Epidemiology 1 (1990), 43–46.
    • (1990) Epidemiology , vol.1 , pp. 43-46
    • Rothman, K.J.1
  • 30
    • 84940211391 scopus 로고    scopus 로고
    • Improving clinical trial design for Duchenne muscular dystrophy
    • Merlini, L, Sabatelli, P, Improving clinical trial design for Duchenne muscular dystrophy. BMC Neurol, 15, 2015, 153.
    • (2015) BMC Neurol , vol.15 , pp. 153
    • Merlini, L.1    Sabatelli, P.2
  • 31
    • 84901346395 scopus 로고    scopus 로고
    • A community-engaged approach to quantifying caregiver preferences for the benefits and risks of emerging therapies for Duchenne muscular dystrophy
    • Peay, HL, Hollin, I, Fischer, R, Bridges, JF, A community-engaged approach to quantifying caregiver preferences for the benefits and risks of emerging therapies for Duchenne muscular dystrophy. Clin Ther 36 (2014), 624–637.
    • (2014) Clin Ther , vol.36 , pp. 624-637
    • Peay, H.L.1    Hollin, I.2    Fischer, R.3    Bridges, J.F.4
  • 32
    • 84879902003 scopus 로고    scopus 로고
    • The 6-minute walk test and person-reported outcomes in boys with Duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year
    • ecurrents.md.9e17658b007eb79fcd6f723089f79e06.
    • Henricson, E, Abresch, R, Han, JJ, et al. The 6-minute walk test and person-reported outcomes in boys with Duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year. PLoS Curr, 5, 2013 ecurrents.md.9e17658b007eb79fcd6f723089f79e06.
    • (2013) PLoS Curr , vol.5
    • Henricson, E.1    Abresch, R.2    Han, J.J.3


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