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Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.
Coratti, Giorgia; Civitello, Matthew; Rohwer, Annemarie; Salmin, Francesca; Glanzman, Allan M; Montes, Jaqueline; Pasternak, Amy; De Sanctis, Roberto; Young, Sally Dunaway; Duong, Tina; Mizzoni, Irene; Milev, Evelin; Sframeli, Maria; Morando, Simone; Albamonte, Emilio; D'Amico, Adele; Brolatti, Noemi; Pane, Marika; Scoto, Mariacristina; Messina, Sonia; Hirano, Michio; Zolkipli-Cunningham, Zarazuela; Darras, Basil T; Bertini, Enrico; Bruno, Claudio; Sansone, Valeria A; Day, John; Baranello, Giovanni; Pera, Maria Carmela; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio.
Affiliation
  • Coratti G; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Civitello M; St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Rohwer A; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Salmin F; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy.
  • Glanzman AM; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Montes J; Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Pasternak A; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • De Sanctis R; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Young SD; Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA.
  • Duong T; Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA.
  • Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Milev E; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.
  • Morando S; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy.
  • Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy.
  • D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Brolatti N; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy.
  • Pane M; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Scoto M; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Messina S; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.
  • Hirano M; Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Zolkipli-Cunningham Z; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Darras BT; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Bruno C; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy.
  • Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy.
  • Day J; Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA.
  • Baranello G; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Pera MC; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Muntoni F; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; School of Health and Sports Sciences, University of Suffolk, Ipswich IP4 1QJ, UK.
  • Finkel R; St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Mercuri E; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it.
Neuromuscul Disord ; 41: 42-50, 2024 Aug.
Article in En | MEDLINE | ID: mdl-38936290
ABSTRACT
Several studies have shown the efficacy of new disease-modifying therapies in slowing down type II SMA progression using the Hammersmith Functional Motor Scale Expanded (HFMSE). This research aims to enhance understanding of activity changes across age groups post-nusinersen treatment using shift analysis, compared with untreated individuals. Retrospective data from the, international SMA consortium (iSMAc) dataset were analyzed, assessing individual item changes over 12 months. Shift analysis was used to determine the gain or loss of abilities, defining "gain" as a positive change between scores from 0 to either 1 or 2 and "loss" as a negative change from either 2 or 1 to 0. The cohort included 130 SMA II patients who underwent 12-month assessments from their first nusinersen dose, with age range between 0.6 and 49.6 years. One-third of the entire cohort experienced at least a loss in one activity, while 60% experienced a gain, particularly notable in children aged 2.5 to 5 years and 5 to 13 years. Overall, the study demonstrates a positive impact of nusinersen treatment on SMA II patients, showing a trend of increased activity gains and decreased probability of ability loss across different age groups.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligonucleotides / Spinal Muscular Atrophies of Childhood Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2024 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligonucleotides / Spinal Muscular Atrophies of Childhood Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2024 Document type: Article Affiliation country: Country of publication: