Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe - Aix-Marseille Université Access content directly
Journal Articles Journal of Neurology Year : 2014

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Catherine Bladen
  • Function : Author
Rachel Thompson
  • Function : Author
Jacqueline M Jackson
  • Function : Author
Connie Garland
  • Function : Author
Claire Wegel
  • Function : Author
Anna Ambrosini
  • Function : Author
Paolo Pisano
  • Function : Author
Olivia Schreiber
  • Function : Author
Anna Lusakowska
Maria Jedrzejowska
  • Function : Author
Anna Kostera-Pruszczyk
  • Function : Author
Ludo van Der Pol
  • Function : Author
Renske I Wadman
  • Function : Author
Ole Gredal
  • Function : Author
Ayse Karaduman
  • Function : Author
Vitaliy Matyushenko
  • Function : Author
Vedrana Milic Rasic
  • Function : Author
Ana Kosac
  • Function : Author
Veronika Karcagi
  • Function : Author
Marta Garami
  • Function : Author
Agnes Herczegfalvi
  • Function : Author
Soledad Monges
  • Function : Author
Angelica Moresco
  • Function : Author
Lilien Chertkoff
  • Function : Author
Teodora Chamova
  • Function : Author
Velina Guergueltcheva
  • Function : Author
Niculina Butoianu
  • Function : Author
Lawrence Korngut
  • Function : Author
Craig Campbell
  • Function : Author
Jan Haberlova
  • Function : Author
Jan Strenkova
  • Function : Author
Moises Alejandro
  • Function : Author
Alatorre Jimenez
  • Function : Author
Genaro Gabriel Ortiz
  • Function : Author
Miriam Rodrigues
  • Function : Author
Richard Roxburgh
  • Function : Author
Hugh Dawkins
  • Function : Author
  • PersonId : 947543
Leanne Youngs
  • Function : Author
Jaana Lahdetie
  • Function : Author
Natalija Angelkova
  • Function : Author
Pascal Saugier-Veber
  • Function : Author
Clemens Bloetzer
  • Function : Author
Pierre-Yves Jeannet
  • Function : Author
Andrea Klein
  • Function : Author
Andres Nascimento
  • Function : Author
Eduardo Tizzano
  • Function : Author
  • PersonId : 914633
Thomas Sejersen
  • Function : Author
Jan Kirschner
  • Function : Author
Karen Rafferty
  • Function : Author
Volker Straub
  • Function : Author
  • PersonId : 915050
Jan Verschuuren
  • Function : Author
Jacqueline M. Jackson
  • Function : Author
Maggie C. Walter
  • Function : Author
Renske I. Wadman
  • Function : Author

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.
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Dates and versions

hal-01681799 , version 1 (11-01-2018)

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Catherine Bladen, Rachel Thompson, Jacqueline M Jackson, Connie Garland, Claire Wegel, et al.. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. Journal of Neurology, 2014, 261 (1), pp.152 - 163. ⟨10.1007/s00415-013-7154-1⟩. ⟨hal-01681799⟩

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