Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials

Autor: McDonald CM, A238., Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, Rs, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, Es, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud LC, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo AP, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Finkel, R, Frank, Lm, Harper, A, Hattori, A, Herguner, O, Iannaccone, S, Janas, J, Jong, Yj, Komaki, H, Kuntz, N, Lee, Wt, Leung, E, Mah, J, Cm, M, Mercuri, E, Mcmillan, H, Mueller-Felber, W, Lopez de Munain, A, Nakamura, A, Niks, E, Ogata, K, Pascual, S, Pegoraro, E, Pereon, Y, Renfroe, B, Sanka, Rb, Schallner, J, Sendra, Ii, Servais, L, Smith, E, Sparks, S, Victor, R, Wicklund, M, Wilichoswki, E, Wong, B.

Publikováno v: Muscle & Nerve

Introduction In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisone/prednisolone placebo arm treatment in two recent Duchenne muscular dystrophy (DMD) clinical trials. Methods Ambulatory boys w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226b242305b42902003713d1980f97f5
https://doi.org/10.1002/mus.26736

P.066 AVXS-101 gene-replacement therapy (GRT) in spinal muscular atrophy type 1 (SMA1): long-term follow-up from the phase 1 clinical trial

Autor: Mendell, JR, Lehman, KJ, McColly, M, Lowes, LP, Alfano, LN, Miller, NF, Iammarino, MA, Church, K, Schultz, M, Ogrinc, FG, L’Italien, J, Kernbauer, E, Shah, S, Sproule, DM, Feltner, DE

Publikováno v: The Canadian Journal of Neurological Sciences; June 2019, Vol. 46 Issue: Supplement 1 pS32-S32, 1p

Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.

Autor: P Lowes L; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America., Alfano LN; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America., Iammarino MA; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America., Reash NF; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America., Giblin K; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, United States of America., Hu L; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, United States of America., Yu L; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, United States of America., Wang S; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, United States of America., Salazar R; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, United States of America., Mendell JR; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, United States of America.

Publikováno v: PloS one [PLoS One] 2024 May 16; Vol. 19 (5), pp. e0300700. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024).

Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.

Autor: Mendell JR; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.; Department of Neurology, The Ohio State University, Columbus, OH, USA., Pozsgai ER; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Lewis S; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Griffin DA; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Lowes LP; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Alfano LN; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Lehman KJ; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Church K; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Reash NF; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Iammarino MA; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Sabo B; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Potter R; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Neuhaus S; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Li X; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Stevenson H; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Rodino-Klapac LR; Sarepta Therapeutics, Inc., Cambridge, MA, USA. LRodinoKlapac@Sarepta.com.

Publikováno v: Nature medicine [Nat Med] 2024 Jan; Vol. 30 (1), pp. 199-206. Date of Electronic Publication: 2024 Jan 04.

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.

Autor: Shieh PB; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address: pshieh@mednet.ucla.edu., Kuntz NL; Division of Neurology, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Müller-Felber W; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, USA., Seferian AM; I-Motion, Hôpital Armand Trousseau, Paris, France., Servais L; I-Motion, Hôpital Armand Trousseau, Paris, France; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège, University of Liège, Liège, Belgium; Department of Paediatrics, MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Smith BK; Department of Physical Therapy, University of Florida, Gainesville, FL, USA., Muntoni F; NIHR, Great Ormond Street Hospital Biomedical Research Centre, University College London Institute of Child Health, London, UK., Blaschek A; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, USA., Saade DN; Division of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Neuhaus S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH, Bethesda, MD, USA., Alfano LN; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA., Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Buj-Bello A; Généthon, Evry, France; Integrare Research Unit UMR_S951, Université Paris-Saclay, Université d'Evry, Inserm, Généthon, Evry, France., Childers MK; Department of Rehabilitation Medicine, Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA., Duong T; Department of Neurology, Stanford University, Palo Alto, CA, USA., Graham RJ; Division of Critical Care Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jain M; Rehabilitation Medicine Department, NIH Hatfield Clinical Research Center, Bethesda, MD, USA., Coats J; Astellas Gene Therapies, San Francisco, CA, USA., MacBean V; Department of Health Sciences, Brunel University London, London, UK., James ES; Astellas Gene Therapies, San Francisco, CA, USA., Lee J; Astellas Gene Therapies, San Francisco, CA, USA., Mavilio F; Astellas Gene Therapies, San Francisco, CA, USA; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy., Miller W; Astellas Gene Therapies, San Francisco, CA, USA., Varfaj F; Astellas Gene Therapies, San Francisco, CA, USA., Murtagh M; Astellas Gene Therapies, San Francisco, CA, USA., Han C; Astellas Pharma Global Development, Northbrook, IL, USA., Noursalehi M; Astellas Gene Therapies, San Francisco, CA, USA., Lawlor MW; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Diverge Translational Science Laboratory, Milwaukee, WI, USA., Prasad S; Astellas Gene Therapies, San Francisco, CA, USA., Rico S; Astellas Gene Therapies, San Francisco, CA, USA.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2023 Dec; Vol. 22 (12), pp. 1125-1139.