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.

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.

Autor: Strauss KA; Clinic for Special Children, Strasburg, Pennsylvania, USA.; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Pennsylvania, Lancaster, USA.; Department of Pediatrics, UMass Chan Medical School, Worcester, Massachusetts, USA.; Department of Molecular, Cell & Cancer Biology, UMass Chan Medical School, Worcester, Massachusetts, USA., Carson VJ; Clinic for Special Children, Strasburg, Pennsylvania, USA.; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Pennsylvania, Lancaster, USA., Bolettieri E; Clinic for Special Children, Strasburg, Pennsylvania, USA., Everett M; Clinic for Special Children, Strasburg, Pennsylvania, USA., Bollinger A; Clinic for Special Children, Strasburg, Pennsylvania, USA., Bowser LE; Clinic for Special Children, Strasburg, Pennsylvania, USA., Beiler K; Clinic for Special Children, Strasburg, Pennsylvania, USA., Young M; Clinic for Special Children, Strasburg, Pennsylvania, USA., Edvardson S; ALYN Hospital Pediatric and Adolescent Rehabilitation Center, Jerusalem, Israel., Fraenkel N; ALYN Hospital Pediatric and Adolescent Rehabilitation Center, Jerusalem, Israel., D'Amico A; Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Bertini E; Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Lingappa L; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, India., Chowdhury D; Cardiology Care for Children, Lancaster, Pennsylvania, USA.; Department of Cardiology, Nemours Children's Health, Wilmington, Delaware, USA., Lowes LP; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA., Iammarino M; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA., Alfano LN; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA., Brigatti KW; Clinic for Special Children, Strasburg, Pennsylvania, USA.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Nov; Vol. 10 (11), pp. 1972-1984. Date of Electronic Publication: 2023 Aug 25.

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.

Autor: Flanigan KM; The Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA. kevin.flanigan@nationwidechildrens.org.; The Departments of Pediatrics, The Ohio State University, Columbus, OH, USA. kevin.flanigan@nationwidechildrens.org.; The Departments of Neurology, The Ohio State University, Columbus, OH, USA. kevin.flanigan@nationwidechildrens.org., Waldrop MA; The Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; The Departments of Pediatrics, The Ohio State University, Columbus, OH, USA.; The Departments of Neurology, The Ohio State University, Columbus, OH, USA., Martin PT; The Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; The Departments of Pediatrics, The Ohio State University, Columbus, OH, USA., Alles R; The Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Dunn DM; The Department of Human Genetics, University of Utah, Salt Lake, UT, USA., Alfano LN; The Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; The Departments of Pediatrics, The Ohio State University, Columbus, OH, USA., Simmons TR; The Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Moore-Clingenpeel M; The Battelle Center for Mathematical Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; The Departments of Statistics, The Ohio State University, Columbus, OH, USA., Burian J; The Battelle Center for Mathematical Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Seok SC; The Battelle Center for Mathematical Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Weiss RB; The Department of Human Genetics, University of Utah, Salt Lake, UT, USA., Vieland VJ; The Departments of Pediatrics, The Ohio State University, Columbus, OH, USA.; The Battelle Center for Mathematical Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; The Departments of Statistics, The Ohio State University, Columbus, OH, USA.; Mathematical Medicine, LLC, Chicago, IL, USA.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jun; Vol. 31 (6), pp. 663-673. Date of Electronic Publication: 2023 Mar 20.