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Page 1
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.
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR. Day JW, et al. Among authors: smith ec. Lancet Neurol. 2021 Apr;20(4):284-293. doi: 10.1016/S1474-4422(21)00001-6. Epub 2021 Mar 17. Lancet Neurol. 2021. PMID: 33743238 Clinical Trial.
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ; Project Cure SMA Investigators Network. Krosschell KJ, et al. Pediatr Phys Ther. 2013 Summer;25(2):140-8; discussion 149. doi: 10.1097/PEP.0b013e31828a205f. Pediatr Phys Ther. 2013. PMID: 23542189 Free PMC article.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Bushby K, et al. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network. Krosschell KJ, et al. Among authors: smith ec. Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18. Muscle Nerve. 2018. PMID: 28833236 Clinical Trial.
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.
Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D; Tadalafil DMD Study Group. Victor RG, et al. Neurology. 2017 Oct 24;89(17):1811-1820. doi: 10.1212/WNL.0000000000004570. Epub 2017 Sep 29. Neurology. 2017. PMID: 28972192 Free PMC article. Clinical Trial.
A multinational study on motor function in early-onset FSHD.
Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, de Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen YW; Cooperative International Neuromuscular Research Group (CINRG) Investigators. Mah JK, et al. Neurology. 2018 Apr 10;90(15):e1333-e1338. doi: 10.1212/WNL.0000000000005297. Epub 2018 Mar 14. Neurology. 2018. PMID: 29540582 Free PMC article.
Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy.
McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G; DEMAND V study group. McDonald CM, et al. Ann Clin Transl Neurol. 2018 Jul 11;5(8):913-926. doi: 10.1002/acn3.579. eCollection 2018 Aug. Ann Clin Transl Neurol. 2018. PMID: 30128316 Free PMC article.
Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.
Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR. Conklin LS, et al. Among authors: smith al, smith ec. Pharmacol Res. 2018 Oct;136:140-150. doi: 10.1016/j.phrs.2018.09.007. Epub 2018 Sep 13. Pharmacol Res. 2018. PMID: 30219580 Free PMC article. Clinical Trial.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Shashi V, et al. Among authors: smith ec. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12. EMBO J. 2018. PMID: 30420557 Free PMC article.
Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.
Hoffman EP, Schwartz BD, Mengle-Gaw LJ, Smith EC, Castro D, Mah JK, McDonald CM, Kuntz NL, Finkel RS, Guglieri M, Bushby K, Tulinius M, Nevo Y, Ryan MM, Webster R, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Siener C, Jaros M, Shale P, McCall JM, Nagaraju K, van den Anker J, Conklin LS, Cnaan A, Gordish-Dressman H, Damsker JM, Clemens PR; Cooperative International Neuromuscular Research Group. Hoffman EP, et al. Among authors: smith al, smith ec. Neurology. 2019 Sep 24;93(13):e1312-e1323. doi: 10.1212/WNL.0000000000008168. Epub 2019 Aug 26. Neurology. 2019. PMID: 31451516 Free PMC article. Clinical Trial.
395 results