Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

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Tytuł:: Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.
Autorzy:: Gómez-García de la Banda M; Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.
Amaddeo A; Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP Hôpital Necker Enfants-Malades, Paris, France.; Université de Paris, VIFASOM, Paris, France.
Khirani S; Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP Hôpital Necker Enfants-Malades, Paris, France.; Université de Paris, VIFASOM, Paris, France.; ASV Santé, Gennevilliers, France.
Pruvost S; Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.
Barnerias C; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Pediatric Neurology Department, AP-HP Hôpital Necker Enfants Malades, Paris, France.
Dabaj I; Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; Service de Néonatologie, Réanimation Pédiatrique, Neuropédiatrie et éDucation Fonctionnelle de l'enfant, CHU de Rouen, INSERM U 1245, ED497, Rouen, France.
Bénézit A; Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.
Durigneux J; Pediatric Neurology Department, Centre de Référence des Maladies Neuromusculaires Atlantique Occitanie Caraïbes (AOC), Centre Hospitalier Universitaire, Angers, France.
Carlier RY; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Radiology Department, AP-HP Université Paris Saclay, DMU Smart Imaging, Hôpital Raymond Poincaré, Garches, France.
Desguerre I; Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Pediatric Neurology Department, AP-HP Hôpital Necker Enfants Malades, Paris, France.
Quijano-Roy S; Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; INSERM U1179, Université de Versailles Saint-Quentin (UVSQ), UFR des Sciences de la Santé Simone Vieil, Montigny, France.
Fauroux B; Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP Hôpital Necker Enfants-Malades, Paris, France.; Université de Paris, VIFASOM, Paris, France.
Źródło:: Pediatric pulmonology [Pediatr Pulmonol] 2021 Jan; Vol. 56 (1), pp. 299-306. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Publication: <2005-> : Hoboken, NJ : Wiley-Liss
Original Publication: [Philadelphia, PA] : W.B. Saunders, [c1985-
MeSH Terms:: Motor Skills/*drug effects
Oligonucleotides/*therapeutic use
Respiratory Muscles/*drug effects
Spinal Muscular Atrophies of Childhood/*drug therapy
Child ; Child, Preschool ; Female ; Historically Controlled Study ; Humans ; Male ; Oligonucleotides/pharmacology ; Respiratory Function Tests ; Respiratory Muscles/physiopathology ; Spinal Muscular Atrophies of Childhood/physiopathology
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Contributed Indexing:: Keywords: lung function; motor function; nusinersen; respiratory muscles; spinal muscular atrophy
Substance Nomenclature:: 0 (Oligonucleotides)
5Z9SP3X666 (nusinersen)
Entry Date(s):: Date Created: 20201029 Date Completed: 20210614 Latest Revision: 20210614
Update Code:: 20240105
DOI:: 10.1002/ppul.25142
PMID:: 33118682
: Czasopismo naukowe

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Introduction: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function were evaluated in children with SMA 1c and 2 after six injections of nusinersen (M14). Results from patients with SMA2 were compared with data of age-matched historical controls. Motor function tests (MFM and HINE-2) were assessed at baseline and M14 in the treated patients.
Results: Sixteen children (2 SMA Type 1c and 14 SMA Type 2), mean age 9.4 ± 2.3 years, were included. The data of 14 historical SMA 2 controls (mean age 9.3 ± 1.9 years) were gathered. The strength of the global inspiratory muscles of SMA 2 treated with nusinersen, assessed on maximal static inspiratory pressure, forced vital capacity, and esophageal pressure during a maximal sniff was significantly better compared with historical controls (p < .05). A significant improvement in MFM and HINE-2 was observed in the patients with 16 SMA treated with nusinersen after 14 months as compared with baseline.
Conclusion: In children with SMA Type 2, respiratory muscle performance was significantly better after six injections of nusinersen as compared with age-matched SMA Type 2 historical controls.
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