Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations.

Autor: Schroth MK; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Deans J; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Bharucha Goebel DX; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Burnette WB; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Darras BT; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Elsheikh BH; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Felker MV; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Klein A; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Krueger J; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Proud CM; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Veerapandiyan A; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School., Graham RJ; Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School.

Publikováno v: Neurology. Clinical practice [Neurol Clin Pract] 2025 Feb; Vol. 15 (1), pp. e200374. Date of Electronic Publication: 2024 Oct 08.

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.

Autor: Servais L; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liège, Liège, Belgium., Day JW; Department of Neurology, Stanford University Medical Center, Stanford, CA, USA., De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Kirschner J; Department for Neuropediatrics and Muscle Disease, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Mercuri E; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy., Muntoni F; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK., Proud CM; Children's Hospital of The King's Daughters, Norfolk, VA, USA., Shieh PB; Department of Neurology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, CA, USA., Tizzano EF; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain., Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France., Desguerre I; Hôpital Necker Enfants Malades, APHP, Paris, France., Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan., Faulkner E; Novartis Gene Therapies, Inc., Bannockburn, IL, USA.; Institute for Precision and Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, IL, USA.; Genomics, Biotech and Emerging Medical Technology Institute, National Association of Managed Care Physicians, Richmond, VA, USA., Benguerba KM; Novartis Gene Therapies Switzerland GmbH, Rotkreuz, Switzerland., Raju D; Novartis Gene Therapies, Inc., Bannockburn, IL, USA., LaMarca N; Novartis Gene Therapies, Inc., Bannockburn, IL, USA., Sun R; Novartis Gene Therapies, Inc., Bannockburn, IL, USA., Anderson FA; Center for Outcomes Research, University of Massachusetts Medical School, Worcester, MA, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (2), pp. 425-442.

Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1-Year Interim Results from Study SRP-9001-103 (ENDEAVOR).

Autor: Zaidman CM; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA., Proud CM; Children's Hospital of the King's Daughters, Norfolk, VA, USA., McDonald CM; University of California Davis Health, Sacramento, CA, USA., Lehman KJ; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA., Goedeker NL; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA., Mason S; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Murphy AP; Roche Products Ltd, Welwyn Garden City, UK., Guridi M; F. Hoffmann-La Roche Ltd, Basel, Switzerland., Wang S; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Reid C; Roche Products Ltd, Welwyn Garden City, UK., Darton E; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Wandel C; F. Hoffmann-La Roche Ltd, Basel, Switzerland., Lewis S; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Malhotra J; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Griffin DA; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Potter RA; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Rodino-Klapac LR; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Mendell JR; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University, Columbus, OH, USA.

Publikováno v: Annals of neurology [Ann Neurol] 2023 Nov; Vol. 94 (5), pp. 955-968. Date of Electronic Publication: 2023 Sep 07.

Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.

Autor: McMillan HJ; Departments of Pediatrics, Neurology & Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada., Proud CM; Children's Hospital of the King's Daughters, Norfolk, VA, United States., Farrar MA; School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.; Department of Neurology, Sydney Children's Hospital Network, Sydney, NSW, Australia., Alexander IE; Gene Therapy Research Unit, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney and Sydney Children's Hospitals Network, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia., Muntoni F; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK., Servais L; Department of Pediatrics, Centre Hospitalier Universitaire de Liège & Université de Liège, Liège, Belgium.; MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK.

Publikováno v: Expert opinion on biological therapy [Expert Opin Biol Ther] 2022 Sep; Vol. 22 (9), pp. 1075-1090. Date of Electronic Publication: 2022 May 02.

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.

Autor: Kichula EA; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Proud CM; Children's Hospital of the King's Daughters, Norfolk, Virginia, USA., Farrar MA; School of Women's and Children's Health, UNSW Medicine, University of New South Wales Sydney and Sydney Children's Hospital Network, Sydney, New South Wales, Australia., Kwon JM; School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA., Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan., Desguerre I; Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France., McMillan HJ; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Publikováno v: Muscle & nerve [Muscle Nerve] 2021 Oct; Vol. 64 (4), pp. 413-427. Date of Electronic Publication: 2021 Jul 20.