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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Among authors: smith bk. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
Respiratory assessment in centronuclear myopathies.
Smith BK, Goddard M, Childers MK. Smith BK, et al. Muscle Nerve. 2014 Sep;50(3):315-26. doi: 10.1002/mus.24249. Epub 2014 Aug 5. Muscle Nerve. 2014. PMID: 24668768 Free PMC article. Review.
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.
Goddard MA, Mack DL, Czerniecki SM, Kelly VE, Snyder JM, Grange RW, Lawlor MW, Smith BK, Beggs AH, Childers MK. Goddard MA, et al. Among authors: smith bk. Ann Transl Med. 2015 Oct;3(18):262. doi: 10.3978/j.issn.2305-5839.2015.10.31. Ann Transl Med. 2015. PMID: 26605308 Free PMC article.
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK. Mack DL, et al. Among authors: smith bk. Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22. Mol Ther. 2017. PMID: 28237839 Free PMC article.
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB; INCEPTUS investigators. Dowling JJ, et al. Among authors: smith bk. J Neuromuscul Dis. 2022;9(4):503-516. doi: 10.3233/JND-210781. J Neuromuscul Dis. 2022. PMID: 35694931 Free PMC article.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Lawlor MW, et al. Among authors: smith bk. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. EBioMedicine. 2024. PMID: 38086156 Free PMC article.
Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.
Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, Fuller DD, Cleaver BD, Clément N, Phillips D, Islam S, Dobjia N, Byrne BJ. Smith BK, et al. Hum Gene Ther. 2013 Jun;24(6):630-40. doi: 10.1089/hum.2012.250. Hum Gene Ther. 2013. PMID: 23570273 Free PMC article. Clinical Trial.
Adeno-associated virus-mediated gene therapy for metabolic myopathy.
Mah CS, Soustek MS, Todd AG, McCall A, Smith BK, Corti M, Falk DJ, Byrne BJ. Mah CS, et al. Among authors: smith bk. Hum Gene Ther. 2013 Nov;24(11):928-36. doi: 10.1089/hum.2013.2514. Hum Gene Ther. 2013. PMID: 24164240 Free PMC article. Review.
281 results