Home > Publications Database > 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. > print

001     269341
005     20240808164611.0
024 7 _ |a pmc:PMC11055798
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024 7 _ |a 10.1007/s00415-024-12188-5
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024 7 _ |a pmid:38409538
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024 7 _ |a 0367-004X
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024 7 _ |a 0012-1037
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024 7 _ |a 0340-5354
|2 ISSN
024 7 _ |a 1432-1459
|2 ISSN
037 _ _ |a DZNE-2024-00510
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Vill, Katharina
|0 0000-0003-1925-7538
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245 _ _ |a 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
260 _ _ |a Heidelberg
|c 2024
|b Springer
336 7 _ |a article
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336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening. Only data prior to initiation of disease-modifying treatment were included. The median age at disease onset was 3.0 years, with a mean of 6.4 years. Significantly, 55% of patients experienced symptoms before the age of 36 months. 3% never learned to sit unaided, a further 13% never gained the ability to walk independently and 33% of ambulatory patients lost this ability during the course of the disease. 43% developed scoliosis, 6.3% required non-invasive ventilation and 1.1% required tube feeding. In conclusion, our study, in line with previous observations, highlights the substantial phenotypic heterogeneity in SMA. Importantly, this study provides novel insights: the median age of disease onset in patients with 4 SMN2 copies typically occurs before school age, and in half of the patients even before the age of three years. These findings support a proactive approach, particularly early treatment initiation, in this subset of SMA patients diagnosed pre-symptomatically. However, it is important to recognize that the register will not include asymptomatic individuals.
536 _ _ |a 899 - ohne Topic (POF4-899)
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a SMN2
|2 Other
650 _ 7 |a Age of onset
|2 Other
650 _ 7 |a Molecular therapies
|2 Other
650 _ 7 |a Neonatal screening
|2 Other
650 _ 7 |a Pre-symptomatic treatment
|2 Other
650 _ 7 |a SMA
|2 Other
650 _ 7 |a Spinal muscular atrophy
|2 Other
650 _ 7 |a Survival of Motor Neuron 2 Protein
|2 NLM Chemicals
650 _ 7 |a SMN2 protein, human
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Retrospective Studies
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Survival of Motor Neuron 2 Protein: genetics
|2 MeSH
650 _ 2 |a Child, Preschool
|2 MeSH
650 _ 2 |a Child
|2 MeSH
650 _ 2 |a Muscular Atrophy, Spinal: genetics
|2 MeSH
650 _ 2 |a Muscular Atrophy, Spinal: diagnosis
|2 MeSH
650 _ 2 |a Infant
|2 MeSH
650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Disease Progression
|2 MeSH
650 _ 2 |a Age of Onset
|2 MeSH
650 _ 2 |a Registries
|2 MeSH
650 _ 2 |a Germany
|2 MeSH
650 _ 2 |a Switzerland
|2 MeSH
650 _ 2 |a Austria: epidemiology
|2 MeSH
650 _ 2 |a Young Adult
|2 MeSH
650 _ 2 |a Neonatal Screening
|2 MeSH
650 _ 2 |a Infant, Newborn
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
700 1 _ |a Tacke, Moritz
|b 1
700 1 _ |a König, Anna
|b 2
700 1 _ |a Baumann, Matthias
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700 1 _ |a Baumgartner, Manuela
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700 1 _ |a Steinbach, Meike
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700 1 _ |a Bernert, Guenther
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700 1 _ |a Blaschek, Astrid
|b 7
700 1 _ |a Deschauer, Marcus
|b 8
700 1 _ |a Flotats-Bastardas, Marina
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700 1 _ |a Friese, Johannes
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700 1 _ |a Goldbach, Susanne
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700 1 _ |a Gross, Martin
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700 1 _ |a Günther, René
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700 1 _ |a Hahn, Andreas
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700 1 _ |a Hagenacker, Tim
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700 1 _ |a Hauser, Erwin
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700 1 _ |a Horber, Veronka
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700 1 _ |a Illsinger, Sabine
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700 1 _ |a Johannsen, Jessika
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700 1 _ |a Kamm, Christoph
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700 1 _ |a Koch, Jan C
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700 1 _ |a Koelbel, Heike
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700 1 _ |a Koehler, Cornelia
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700 1 _ |a Kolzter, Kirsten
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700 1 _ |a Lochmüller, Hanns
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700 1 _ |a Ludolph, Albert
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700 1 _ |a Mensch, Alexander
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700 1 _ |a Meyer Zu Hoerste, Gerd
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700 1 _ |a Mueller, Monika
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700 1 _ |a Mueller-Felber, Wolfgang
|b 30
700 1 _ |a Neuwirth, Christoph
|b 31
700 1 _ |a Petri, Susanne
|b 32
700 1 _ |a Probst-Schendzielorz, Kristina
|b 33
700 1 _ |a Pühringer, Manuel
|b 34
700 1 _ |a Steinbach, Robert
|b 35
700 1 _ |a Schara-Schmidt, Ulrike
|b 36
700 1 _ |a Schimmel, Mareike
|b 37
700 1 _ |a Schrank, Bertold
|b 38
700 1 _ |a Schwartz, Oliver
|b 39
700 1 _ |a Schlachter, Kurt
|b 40
700 1 _ |a Schwerin-Nagel, Annette
|b 41
700 1 _ |a Schreiber, Gudrun
|b 42
700 1 _ |a Smitka, Martin
|b 43
700 1 _ |a Topakian, Raffi
|b 44
700 1 _ |a Trollmann, Regina
|b 45
700 1 _ |a Tuerk, Matthias
|b 46
700 1 _ |a Theophil, Manuela
|b 47
700 1 _ |a Rauscher, Christian
|b 48
700 1 _ |a Vorgerd, Mathias
|b 49
700 1 _ |a Walter, Maggie C
|b 50
700 1 _ |a Weiler, Markus
|b 51
700 1 _ |a Weiss, Claudia
|b 52
700 1 _ |a Wilichowski, Ekkehard
|b 53
700 1 _ |a Wurster, Claudia
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700 1 _ |a Wunderlich, Gilbert
|0 P:(DE-HGF)0
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700 1 _ |a Zeller, Daniel
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700 1 _ |a Ziegler, Andreas
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700 1 _ |a Kirschner, Janbernd
|b 58
700 1 _ |a Pechmann, Astrid
|b 59
700 1 _ |a group, SMArtCARE study
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773 _ _ |a 10.1007/s00415-024-12188-5
|g Vol. 271, no. 5, p. 2787 - 2797
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