[en] [en] BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (SMN1) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA.
METHODS: A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations.
RESULTS: The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA.
DISCUSSION: Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.
Disciplines :
Pediatrics
Author, co-author :
Schroth, Mary ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Deans, Jennifer ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Arya, Kapil ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Castro, Diana ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
De Vivo, Darryl C; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Gibbons, Melissa A ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Ionita, Cristian ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Kuntz, Nancy L ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Lakhotia, Arpita ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Neil Knierbein, Erin ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Scoto, Mariacristina ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Sejersen, Thomas ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques
Tian, Cuixia ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Waldrop, Megan A ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Vázquez-Costa, Juan F ; Cure SMA (M. Schroth, JD), Elk Grove Village, IL, Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Neurology and Neuromuscular Care Center (DC), Denton, TX, Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York, Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora, Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT, Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL, Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY, Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor, The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom, Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium, Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH, Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus, and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain
Funding was provided by the Cure SMA Real-World Evidence Collaboration. Members include Cure SMA, Novartis Gene Therapies, and Biogen. The authors had full control over the content and development of the manuscript. Novartis Gene Therapies and Biogen had no influence or control over the content or development of this manuscript.The Article Processing Charge was funded by Cure SMA.
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